esv2657240
- Organism: Homo sapiens
- Study:estd199 (1000 Genomes Consortium Phase 1)
- Variant Type:copy number variation
- Method Type:Sequencing
- Submitted on:GRCh37 (hg19)
- Variant Calls:60
- Validation:Yes
- Clinical Assertions: No
- Region Size:9,879
- Description:High quality site
- Publication(s):1000 Genomes Project Consortium et al. 2012
Source: NCBI
- Genome View
- Variant Region Details and Evidence
- Validation Information
- Clinical Assertions
- Genotype Information
Genome View
Select assembly:Overlapping variant regions from other studies: 220 SVs from 57 studies. See in: genome view
Overlapping variant regions from other studies: 220 SVs from 57 studies. See in: genome view
Variant Region Placement Information
Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
---|---|---|---|---|---|---|---|---|---|
esv2657240 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000008.11 | Chr8 | 62,302,790 | 62,312,668 |
esv2657240 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000008.10 | Chr8 | 63,215,349 | 63,225,227 |
Variant Call Information
Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
---|---|---|---|---|---|
essv5439891 | deletion | SAMN00001584 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,421 |
essv5462841 | deletion | SAMN00001667 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,455 |
essv5478135 | deletion | SAMN00001188 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,129 |
essv5480885 | deletion | SAMN00001627 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,454 |
essv5539782 | deletion | SAMN00000475 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,658 |
essv5619898 | deletion | SAMN00001629 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,430 |
essv5638336 | deletion | SAMN00001118 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,283 |
essv5662109 | deletion | SAMN00000568 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,629 |
essv5700184 | deletion | SAMN00001187 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,291 |
essv5707530 | deletion | SAMN00001685 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,589 |
essv5708357 | deletion | SAMN00001579 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,501 |
essv5713044 | deletion | SAMN00007806 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,659 |
essv5732168 | deletion | SAMN00001157 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,813 |
essv5765206 | deletion | SAMN00001170 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,684 |
essv5772157 | deletion | SAMN00007825 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 862 |
essv5814870 | deletion | SAMN00001156 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,716 |
essv5820069 | deletion | SAMN00001164 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,515 |
essv5830135 | deletion | SAMN00001129 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,603 |
essv5835064 | deletion | SAMN00007771 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 780 |
essv5840122 | deletion | SAMN00001159 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,248 |
essv5850134 | deletion | SAMN00001155 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,570 |
essv5853145 | deletion | SAMN00001194 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,133 |
essv5860633 | deletion | SAMN00007700 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,460 |
essv5877737 | deletion | SAMN00001586 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,356 |
essv5918407 | deletion | SAMN00009154 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,617 |
essv5921886 | deletion | SAMN00007743 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,615 |
essv5926164 | deletion | SAMN00001576 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,882 |
essv5927375 | deletion | SAMN00001630 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,448 |
essv5966486 | deletion | SAMN00007737 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,715 |
essv5990373 | deletion | SAMN00001592 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,597 |
essv6010166 | deletion | SAMN00000477 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,250 |
essv6013560 | deletion | SAMN00001138 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,561 |
essv6027937 | deletion | SAMN00001101 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,545 |
essv6061126 | deletion | SAMN00000555 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,645 |
essv6064747 | deletion | SAMN00001140 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,625 |
essv6074596 | deletion | SAMN00001694 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,132 |
essv6139906 | deletion | SAMN00001580 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,552 |
essv6142469 | deletion | SAMN00007810 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,430 |
essv6148486 | deletion | SAMN00000476 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,421 |
essv6157350 | deletion | SAMN00000479 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,626 |
essv6257912 | deletion | SAMN00007742 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,283 |
essv6269624 | deletion | SAMN00009193 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,085 |
essv6276370 | deletion | SAMN00004417 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,314 |
essv6293073 | deletion | SAMN00001158 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,358 |
essv6301538 | deletion | SAMN00007841 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 817 |
essv6323102 | deletion | SAMN00001191 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,461 |
essv6338823 | deletion | SAMN00007735 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,353 |
essv6347523 | deletion | SAMN00001168 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,626 |
essv6350982 | deletion | SAMN00001103 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,547 |
essv6364320 | deletion | SAMN00001684 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,509 |
essv6405403 | deletion | SAMN00001167 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,298 |
essv6440796 | deletion | SAMN00001665 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,385 |
essv6441911 | deletion | SAMN00000415 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,058 |
essv6494993 | deletion | SAMN00001180 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,453 |
essv6507904 | deletion | SAMN00000414 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,260 |
essv6525956 | deletion | SAMN00007738 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,656 |
essv6549052 | deletion | SAMN00001176 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,261 |
essv6573176 | deletion | SAMN00001141 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,524 |
essv6592011 | deletion | SAMN00006484 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,036 |
essv6592762 | deletion | SAMN00000481 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 950 |
Variant Call Placement Information
Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
---|---|---|---|---|---|---|---|---|---|
essv5439891 | Remapped | Perfect | NC_000008.11:g.623 02790_62312668delA | GRCh38.p12 | First Pass | NC_000008.11 | Chr8 | 62,302,790 | 62,312,668 |
essv5462841 | Remapped | Perfect | NC_000008.11:g.623 02790_62312668delA | GRCh38.p12 | First Pass | NC_000008.11 | Chr8 | 62,302,790 | 62,312,668 |
essv5478135 | Remapped | Perfect | NC_000008.11:g.623 02790_62312668delA | GRCh38.p12 | First Pass | NC_000008.11 | Chr8 | 62,302,790 | 62,312,668 |
essv5480885 | Remapped | Perfect | NC_000008.11:g.623 02790_62312668delA | GRCh38.p12 | First Pass | NC_000008.11 | Chr8 | 62,302,790 | 62,312,668 |
essv5539782 | Remapped | Perfect | NC_000008.11:g.623 02790_62312668delA | GRCh38.p12 | First Pass | NC_000008.11 | Chr8 | 62,302,790 | 62,312,668 |
essv5619898 | Remapped | Perfect | NC_000008.11:g.623 02790_62312668delA | GRCh38.p12 | First Pass | NC_000008.11 | Chr8 | 62,302,790 | 62,312,668 |
essv5638336 | Remapped | Perfect | NC_000008.11:g.623 02790_62312668delA | GRCh38.p12 | First Pass | NC_000008.11 | Chr8 | 62,302,790 | 62,312,668 |
essv5662109 | Remapped | Perfect | NC_000008.11:g.623 02790_62312668delA | GRCh38.p12 | First Pass | NC_000008.11 | Chr8 | 62,302,790 | 62,312,668 |
essv5700184 | Remapped | Perfect | NC_000008.11:g.623 02790_62312668delA | GRCh38.p12 | First Pass | NC_000008.11 | Chr8 | 62,302,790 | 62,312,668 |
essv5707530 | Remapped | Perfect | NC_000008.11:g.623 02790_62312668delA | GRCh38.p12 | First Pass | NC_000008.11 | Chr8 | 62,302,790 | 62,312,668 |
essv5708357 | Remapped | Perfect | NC_000008.11:g.623 02790_62312668delA | GRCh38.p12 | First Pass | NC_000008.11 | Chr8 | 62,302,790 | 62,312,668 |
essv5713044 | Remapped | Perfect | NC_000008.11:g.623 02790_62312668delA | GRCh38.p12 | First Pass | NC_000008.11 | Chr8 | 62,302,790 | 62,312,668 |
essv5732168 | Remapped | Perfect | NC_000008.11:g.623 02790_62312668delA | GRCh38.p12 | First Pass | NC_000008.11 | Chr8 | 62,302,790 | 62,312,668 |
essv5765206 | Remapped | Perfect | NC_000008.11:g.623 02790_62312668delA | GRCh38.p12 | First Pass | NC_000008.11 | Chr8 | 62,302,790 | 62,312,668 |
essv5772157 | Remapped | Perfect | NC_000008.11:g.623 02790_62312668delA | GRCh38.p12 | First Pass | NC_000008.11 | Chr8 | 62,302,790 | 62,312,668 |
essv5814870 | Remapped | Perfect | NC_000008.11:g.623 02790_62312668delA | GRCh38.p12 | First Pass | NC_000008.11 | Chr8 | 62,302,790 | 62,312,668 |
essv5820069 | Remapped | Perfect | NC_000008.11:g.623 02790_62312668delA | GRCh38.p12 | First Pass | NC_000008.11 | Chr8 | 62,302,790 | 62,312,668 |
essv5830135 | Remapped | Perfect | NC_000008.11:g.623 02790_62312668delA | GRCh38.p12 | First Pass | NC_000008.11 | Chr8 | 62,302,790 | 62,312,668 |
essv5835064 | Remapped | Perfect | NC_000008.11:g.623 02790_62312668delA | GRCh38.p12 | First Pass | NC_000008.11 | Chr8 | 62,302,790 | 62,312,668 |
essv5840122 | Remapped | Perfect | NC_000008.11:g.623 02790_62312668delA | GRCh38.p12 | First Pass | NC_000008.11 | Chr8 | 62,302,790 | 62,312,668 |
essv5850134 | Remapped | Perfect | NC_000008.11:g.623 02790_62312668delA | GRCh38.p12 | First Pass | NC_000008.11 | Chr8 | 62,302,790 | 62,312,668 |
essv5853145 | Remapped | Perfect | NC_000008.11:g.623 02790_62312668delA | GRCh38.p12 | First Pass | NC_000008.11 | Chr8 | 62,302,790 | 62,312,668 |
essv5860633 | Remapped | Perfect | NC_000008.11:g.623 02790_62312668delA | GRCh38.p12 | First Pass | NC_000008.11 | Chr8 | 62,302,790 | 62,312,668 |
essv5877737 | Remapped | Perfect | NC_000008.11:g.623 02790_62312668delA | GRCh38.p12 | First Pass | NC_000008.11 | Chr8 | 62,302,790 | 62,312,668 |
essv5918407 | Remapped | Perfect | NC_000008.11:g.623 02790_62312668delA | GRCh38.p12 | First Pass | NC_000008.11 | Chr8 | 62,302,790 | 62,312,668 |
essv5921886 | Remapped | Perfect | NC_000008.11:g.623 02790_62312668delA | GRCh38.p12 | First Pass | NC_000008.11 | Chr8 | 62,302,790 | 62,312,668 |
essv5926164 | Remapped | Perfect | NC_000008.11:g.623 02790_62312668delA | GRCh38.p12 | First Pass | NC_000008.11 | Chr8 | 62,302,790 | 62,312,668 |
essv5927375 | Remapped | Perfect | NC_000008.11:g.623 02790_62312668delA | GRCh38.p12 | First Pass | NC_000008.11 | Chr8 | 62,302,790 | 62,312,668 |
essv5966486 | Remapped | Perfect | NC_000008.11:g.623 02790_62312668delA | GRCh38.p12 | First Pass | NC_000008.11 | Chr8 | 62,302,790 | 62,312,668 |
essv5990373 | Remapped | Perfect | NC_000008.11:g.623 02790_62312668delA | GRCh38.p12 | First Pass | NC_000008.11 | Chr8 | 62,302,790 | 62,312,668 |
essv6010166 | Remapped | Perfect | NC_000008.11:g.623 02790_62312668delA | GRCh38.p12 | First Pass | NC_000008.11 | Chr8 | 62,302,790 | 62,312,668 |
essv6013560 | Remapped | Perfect | NC_000008.11:g.623 02790_62312668delA | GRCh38.p12 | First Pass | NC_000008.11 | Chr8 | 62,302,790 | 62,312,668 |
essv6027937 | Remapped | Perfect | NC_000008.11:g.623 02790_62312668delA | GRCh38.p12 | First Pass | NC_000008.11 | Chr8 | 62,302,790 | 62,312,668 |
essv6061126 | Remapped | Perfect | NC_000008.11:g.623 02790_62312668delA | GRCh38.p12 | First Pass | NC_000008.11 | Chr8 | 62,302,790 | 62,312,668 |
essv6064747 | Remapped | Perfect | NC_000008.11:g.623 02790_62312668delA | GRCh38.p12 | First Pass | NC_000008.11 | Chr8 | 62,302,790 | 62,312,668 |
essv6074596 | Remapped | Perfect | NC_000008.11:g.623 02790_62312668delA | GRCh38.p12 | First Pass | NC_000008.11 | Chr8 | 62,302,790 | 62,312,668 |
essv6139906 | Remapped | Perfect | NC_000008.11:g.623 02790_62312668delA | GRCh38.p12 | First Pass | NC_000008.11 | Chr8 | 62,302,790 | 62,312,668 |
essv6142469 | Remapped | Perfect | NC_000008.11:g.623 02790_62312668delA | GRCh38.p12 | First Pass | NC_000008.11 | Chr8 | 62,302,790 | 62,312,668 |
essv6148486 | Remapped | Perfect | NC_000008.11:g.623 02790_62312668delA | GRCh38.p12 | First Pass | NC_000008.11 | Chr8 | 62,302,790 | 62,312,668 |
essv6157350 | Remapped | Perfect | NC_000008.11:g.623 02790_62312668delA | GRCh38.p12 | First Pass | NC_000008.11 | Chr8 | 62,302,790 | 62,312,668 |
essv6257912 | Remapped | Perfect | NC_000008.11:g.623 02790_62312668delA | GRCh38.p12 | First Pass | NC_000008.11 | Chr8 | 62,302,790 | 62,312,668 |
essv6269624 | Remapped | Perfect | NC_000008.11:g.623 02790_62312668delA | GRCh38.p12 | First Pass | NC_000008.11 | Chr8 | 62,302,790 | 62,312,668 |
essv6276370 | Remapped | Perfect | NC_000008.11:g.623 02790_62312668delA | GRCh38.p12 | First Pass | NC_000008.11 | Chr8 | 62,302,790 | 62,312,668 |
essv6293073 | Remapped | Perfect | NC_000008.11:g.623 02790_62312668delA | GRCh38.p12 | First Pass | NC_000008.11 | Chr8 | 62,302,790 | 62,312,668 |
essv6301538 | Remapped | Perfect | NC_000008.11:g.623 02790_62312668delA | GRCh38.p12 | First Pass | NC_000008.11 | Chr8 | 62,302,790 | 62,312,668 |
essv6323102 | Remapped | Perfect | NC_000008.11:g.623 02790_62312668delA | GRCh38.p12 | First Pass | NC_000008.11 | Chr8 | 62,302,790 | 62,312,668 |
essv6338823 | Remapped | Perfect | NC_000008.11:g.623 02790_62312668delA | GRCh38.p12 | First Pass | NC_000008.11 | Chr8 | 62,302,790 | 62,312,668 |
essv6347523 | Remapped | Perfect | NC_000008.11:g.623 02790_62312668delA | GRCh38.p12 | First Pass | NC_000008.11 | Chr8 | 62,302,790 | 62,312,668 |
essv6350982 | Remapped | Perfect | NC_000008.11:g.623 02790_62312668delA | GRCh38.p12 | First Pass | NC_000008.11 | Chr8 | 62,302,790 | 62,312,668 |
essv6364320 | Remapped | Perfect | NC_000008.11:g.623 02790_62312668delA | GRCh38.p12 | First Pass | NC_000008.11 | Chr8 | 62,302,790 | 62,312,668 |
essv6405403 | Remapped | Perfect | NC_000008.11:g.623 02790_62312668delA | GRCh38.p12 | First Pass | NC_000008.11 | Chr8 | 62,302,790 | 62,312,668 |
essv6440796 | Remapped | Perfect | NC_000008.11:g.623 02790_62312668delA | GRCh38.p12 | First Pass | NC_000008.11 | Chr8 | 62,302,790 | 62,312,668 |
essv6441911 | Remapped | Perfect | NC_000008.11:g.623 02790_62312668delA | GRCh38.p12 | First Pass | NC_000008.11 | Chr8 | 62,302,790 | 62,312,668 |
essv6494993 | Remapped | Perfect | NC_000008.11:g.623 02790_62312668delA | GRCh38.p12 | First Pass | NC_000008.11 | Chr8 | 62,302,790 | 62,312,668 |
essv6507904 | Remapped | Perfect | NC_000008.11:g.623 02790_62312668delA | GRCh38.p12 | First Pass | NC_000008.11 | Chr8 | 62,302,790 | 62,312,668 |
essv6525956 | Remapped | Perfect | NC_000008.11:g.623 02790_62312668delA | GRCh38.p12 | First Pass | NC_000008.11 | Chr8 | 62,302,790 | 62,312,668 |
essv6549052 | Remapped | Perfect | NC_000008.11:g.623 02790_62312668delA | GRCh38.p12 | First Pass | NC_000008.11 | Chr8 | 62,302,790 | 62,312,668 |
essv6573176 | Remapped | Perfect | NC_000008.11:g.623 02790_62312668delA | GRCh38.p12 | First Pass | NC_000008.11 | Chr8 | 62,302,790 | 62,312,668 |
essv6592011 | Remapped | Perfect | NC_000008.11:g.623 02790_62312668delA | GRCh38.p12 | First Pass | NC_000008.11 | Chr8 | 62,302,790 | 62,312,668 |
essv6592762 | Remapped | Perfect | NC_000008.11:g.623 02790_62312668delA | GRCh38.p12 | First Pass | NC_000008.11 | Chr8 | 62,302,790 | 62,312,668 |
essv5439891 | Submitted genomic | NC_000008.10:g.632 15349_63225227delA | GRCh37 (hg19) | NC_000008.10 | Chr8 | 63,215,349 | 63,225,227 | ||
essv5462841 | Submitted genomic | NC_000008.10:g.632 15349_63225227delA | GRCh37 (hg19) | NC_000008.10 | Chr8 | 63,215,349 | 63,225,227 | ||
essv5478135 | Submitted genomic | NC_000008.10:g.632 15349_63225227delA | GRCh37 (hg19) | NC_000008.10 | Chr8 | 63,215,349 | 63,225,227 | ||
essv5480885 | Submitted genomic | NC_000008.10:g.632 15349_63225227delA | GRCh37 (hg19) | NC_000008.10 | Chr8 | 63,215,349 | 63,225,227 | ||
essv5539782 | Submitted genomic | NC_000008.10:g.632 15349_63225227delA | GRCh37 (hg19) | NC_000008.10 | Chr8 | 63,215,349 | 63,225,227 | ||
essv5619898 | Submitted genomic | NC_000008.10:g.632 15349_63225227delA | GRCh37 (hg19) | NC_000008.10 | Chr8 | 63,215,349 | 63,225,227 | ||
essv5638336 | Submitted genomic | NC_000008.10:g.632 15349_63225227delA | GRCh37 (hg19) | NC_000008.10 | Chr8 | 63,215,349 | 63,225,227 | ||
essv5662109 | Submitted genomic | NC_000008.10:g.632 15349_63225227delA | GRCh37 (hg19) | NC_000008.10 | Chr8 | 63,215,349 | 63,225,227 | ||
essv5700184 | Submitted genomic | NC_000008.10:g.632 15349_63225227delA | GRCh37 (hg19) | NC_000008.10 | Chr8 | 63,215,349 | 63,225,227 | ||
essv5707530 | Submitted genomic | NC_000008.10:g.632 15349_63225227delA | GRCh37 (hg19) | NC_000008.10 | Chr8 | 63,215,349 | 63,225,227 | ||
essv5708357 | Submitted genomic | NC_000008.10:g.632 15349_63225227delA | GRCh37 (hg19) | NC_000008.10 | Chr8 | 63,215,349 | 63,225,227 | ||
essv5713044 | Submitted genomic | NC_000008.10:g.632 15349_63225227delA | GRCh37 (hg19) | NC_000008.10 | Chr8 | 63,215,349 | 63,225,227 | ||
essv5732168 | Submitted genomic | NC_000008.10:g.632 15349_63225227delA | GRCh37 (hg19) | NC_000008.10 | Chr8 | 63,215,349 | 63,225,227 | ||
essv5765206 | Submitted genomic | NC_000008.10:g.632 15349_63225227delA | GRCh37 (hg19) | NC_000008.10 | Chr8 | 63,215,349 | 63,225,227 | ||
essv5772157 | Submitted genomic | NC_000008.10:g.632 15349_63225227delA | GRCh37 (hg19) | NC_000008.10 | Chr8 | 63,215,349 | 63,225,227 | ||
essv5814870 | Submitted genomic | NC_000008.10:g.632 15349_63225227delA | GRCh37 (hg19) | NC_000008.10 | Chr8 | 63,215,349 | 63,225,227 | ||
essv5820069 | Submitted genomic | NC_000008.10:g.632 15349_63225227delA | GRCh37 (hg19) | NC_000008.10 | Chr8 | 63,215,349 | 63,225,227 | ||
essv5830135 | Submitted genomic | NC_000008.10:g.632 15349_63225227delA | GRCh37 (hg19) | NC_000008.10 | Chr8 | 63,215,349 | 63,225,227 | ||
essv5835064 | Submitted genomic | NC_000008.10:g.632 15349_63225227delA | GRCh37 (hg19) | NC_000008.10 | Chr8 | 63,215,349 | 63,225,227 | ||
essv5840122 | Submitted genomic | NC_000008.10:g.632 15349_63225227delA | GRCh37 (hg19) | NC_000008.10 | Chr8 | 63,215,349 | 63,225,227 | ||
essv5850134 | Submitted genomic | NC_000008.10:g.632 15349_63225227delA | GRCh37 (hg19) | NC_000008.10 | Chr8 | 63,215,349 | 63,225,227 | ||
essv5853145 | Submitted genomic | NC_000008.10:g.632 15349_63225227delA | GRCh37 (hg19) | NC_000008.10 | Chr8 | 63,215,349 | 63,225,227 | ||
essv5860633 | Submitted genomic | NC_000008.10:g.632 15349_63225227delA | GRCh37 (hg19) | NC_000008.10 | Chr8 | 63,215,349 | 63,225,227 | ||
essv5877737 | Submitted genomic | NC_000008.10:g.632 15349_63225227delA | GRCh37 (hg19) | NC_000008.10 | Chr8 | 63,215,349 | 63,225,227 | ||
essv5918407 | Submitted genomic | NC_000008.10:g.632 15349_63225227delA | GRCh37 (hg19) | NC_000008.10 | Chr8 | 63,215,349 | 63,225,227 | ||
essv5921886 | Submitted genomic | NC_000008.10:g.632 15349_63225227delA | GRCh37 (hg19) | NC_000008.10 | Chr8 | 63,215,349 | 63,225,227 | ||
essv5926164 | Submitted genomic | NC_000008.10:g.632 15349_63225227delA | GRCh37 (hg19) | NC_000008.10 | Chr8 | 63,215,349 | 63,225,227 | ||
essv5927375 | Submitted genomic | NC_000008.10:g.632 15349_63225227delA | GRCh37 (hg19) | NC_000008.10 | Chr8 | 63,215,349 | 63,225,227 | ||
essv5966486 | Submitted genomic | NC_000008.10:g.632 15349_63225227delA | GRCh37 (hg19) | NC_000008.10 | Chr8 | 63,215,349 | 63,225,227 | ||
essv5990373 | Submitted genomic | NC_000008.10:g.632 15349_63225227delA | GRCh37 (hg19) | NC_000008.10 | Chr8 | 63,215,349 | 63,225,227 | ||
essv6010166 | Submitted genomic | NC_000008.10:g.632 15349_63225227delA | GRCh37 (hg19) | NC_000008.10 | Chr8 | 63,215,349 | 63,225,227 | ||
essv6013560 | Submitted genomic | NC_000008.10:g.632 15349_63225227delA | GRCh37 (hg19) | NC_000008.10 | Chr8 | 63,215,349 | 63,225,227 | ||
essv6027937 | Submitted genomic | NC_000008.10:g.632 15349_63225227delA | GRCh37 (hg19) | NC_000008.10 | Chr8 | 63,215,349 | 63,225,227 | ||
essv6061126 | Submitted genomic | NC_000008.10:g.632 15349_63225227delA | GRCh37 (hg19) | NC_000008.10 | Chr8 | 63,215,349 | 63,225,227 | ||
essv6064747 | Submitted genomic | NC_000008.10:g.632 15349_63225227delA | GRCh37 (hg19) | NC_000008.10 | Chr8 | 63,215,349 | 63,225,227 | ||
essv6074596 | Submitted genomic | NC_000008.10:g.632 15349_63225227delA | GRCh37 (hg19) | NC_000008.10 | Chr8 | 63,215,349 | 63,225,227 | ||
essv6139906 | Submitted genomic | NC_000008.10:g.632 15349_63225227delA | GRCh37 (hg19) | NC_000008.10 | Chr8 | 63,215,349 | 63,225,227 | ||
essv6142469 | Submitted genomic | NC_000008.10:g.632 15349_63225227delA | GRCh37 (hg19) | NC_000008.10 | Chr8 | 63,215,349 | 63,225,227 | ||
essv6148486 | Submitted genomic | NC_000008.10:g.632 15349_63225227delA | GRCh37 (hg19) | NC_000008.10 | Chr8 | 63,215,349 | 63,225,227 | ||
essv6157350 | Submitted genomic | NC_000008.10:g.632 15349_63225227delA | GRCh37 (hg19) | NC_000008.10 | Chr8 | 63,215,349 | 63,225,227 |
Validation Information
Variant Call ID | Experiment ID | Sample ID | Method | Analysis | Result |
---|---|---|---|---|---|
essv6507904 | 9 | SAMN00000414 | Oligo aCGH | Probe signal intensity | Pass |
essv6441911 | 9 | SAMN00000415 | Oligo aCGH | Probe signal intensity | Pass |
essv5539782 | 9 | SAMN00000475 | Oligo aCGH | Probe signal intensity | Pass |
essv6148486 | 9 | SAMN00000476 | Oligo aCGH | Probe signal intensity | Pass |
essv6010166 | 9 | SAMN00000477 | Oligo aCGH | Probe signal intensity | Pass |
essv6157350 | 9 | SAMN00000479 | Oligo aCGH | Probe signal intensity | Pass |
essv6592762 | 9 | SAMN00000481 | Oligo aCGH | Probe signal intensity | Pass |
essv6061126 | 9 | SAMN00000555 | Oligo aCGH | Probe signal intensity | Pass |
essv5662109 | 9 | SAMN00000568 | Oligo aCGH | Probe signal intensity | Pass |
essv6027937 | 9 | SAMN00001101 | Oligo aCGH | Probe signal intensity | Pass |
essv6350982 | 9 | SAMN00001103 | Oligo aCGH | Probe signal intensity | Pass |
essv5638336 | 9 | SAMN00001118 | Oligo aCGH | Probe signal intensity | Pass |
essv5830135 | 9 | SAMN00001129 | Oligo aCGH | Probe signal intensity | Pass |
essv6013560 | 9 | SAMN00001138 | Oligo aCGH | Probe signal intensity | Pass |
essv6064747 | 9 | SAMN00001140 | Oligo aCGH | Probe signal intensity | Pass |
essv6573176 | 9 | SAMN00001141 | Oligo aCGH | Probe signal intensity | Pass |
essv5850134 | 9 | SAMN00001155 | Oligo aCGH | Probe signal intensity | Pass |
essv5814870 | 9 | SAMN00001156 | Oligo aCGH | Probe signal intensity | Pass |
essv5732168 | 9 | SAMN00001157 | Oligo aCGH | Probe signal intensity | Pass |
essv6293073 | 9 | SAMN00001158 | Oligo aCGH | Probe signal intensity | Pass |
essv5840122 | 9 | SAMN00001159 | Oligo aCGH | Probe signal intensity | Pass |
essv5820069 | 9 | SAMN00001164 | Oligo aCGH | Probe signal intensity | Pass |
essv6405403 | 9 | SAMN00001167 | Oligo aCGH | Probe signal intensity | Pass |
essv6347523 | 9 | SAMN00001168 | Oligo aCGH | Probe signal intensity | Pass |
essv5765206 | 9 | SAMN00001170 | Oligo aCGH | Probe signal intensity | Pass |
essv6549052 | 9 | SAMN00001176 | Oligo aCGH | Probe signal intensity | Pass |
essv6494993 | 9 | SAMN00001180 | Oligo aCGH | Probe signal intensity | Pass |
essv5700184 | 9 | SAMN00001187 | Oligo aCGH | Probe signal intensity | Pass |
essv5478135 | 9 | SAMN00001188 | Oligo aCGH | Probe signal intensity | Pass |
essv6323102 | 9 | SAMN00001191 | Oligo aCGH | Probe signal intensity | Pass |
essv5853145 | 9 | SAMN00001194 | Oligo aCGH | Probe signal intensity | Pass |
essv5926164 | 9 | SAMN00001576 | Oligo aCGH | Probe signal intensity | Pass |
essv5708357 | 9 | SAMN00001579 | Oligo aCGH | Probe signal intensity | Pass |
essv6139906 | 9 | SAMN00001580 | Oligo aCGH | Probe signal intensity | Pass |
essv5439891 | 9 | SAMN00001584 | Oligo aCGH | Probe signal intensity | Pass |
essv5877737 | 9 | SAMN00001586 | Oligo aCGH | Probe signal intensity | Pass |
essv5990373 | 9 | SAMN00001592 | Oligo aCGH | Probe signal intensity | Pass |
essv5480885 | 9 | SAMN00001627 | Oligo aCGH | Probe signal intensity | Pass |
essv5619898 | 9 | SAMN00001629 | Oligo aCGH | Probe signal intensity | Pass |
essv5927375 | 9 | SAMN00001630 | Oligo aCGH | Probe signal intensity | Pass |
essv6440796 | 9 | SAMN00001665 | Oligo aCGH | Probe signal intensity | Pass |
essv5462841 | 9 | SAMN00001667 | Oligo aCGH | Probe signal intensity | Pass |
essv6364320 | 9 | SAMN00001684 | Oligo aCGH | Probe signal intensity | Pass |
essv5707530 | 9 | SAMN00001685 | Oligo aCGH | Probe signal intensity | Pass |
essv6074596 | 9 | SAMN00001694 | Oligo aCGH | Probe signal intensity | Pass |
essv6276370 | 9 | SAMN00004417 | Oligo aCGH | Probe signal intensity | Pass |
essv6592011 | 9 | SAMN00006484 | Oligo aCGH | Probe signal intensity | Pass |
essv5860633 | 9 | SAMN00007700 | Oligo aCGH | Probe signal intensity | Pass |
essv6338823 | 9 | SAMN00007735 | Oligo aCGH | Probe signal intensity | Pass |
essv5966486 | 9 | SAMN00007737 | Oligo aCGH | Probe signal intensity | Pass |
essv6525956 | 9 | SAMN00007738 | Oligo aCGH | Probe signal intensity | Pass |
essv6257912 | 9 | SAMN00007742 | Oligo aCGH | Probe signal intensity | Pass |
essv5921886 | 9 | SAMN00007743 | Oligo aCGH | Probe signal intensity | Pass |
essv5835064 | 9 | SAMN00007771 | Oligo aCGH | Probe signal intensity | Pass |
essv5713044 | 9 | SAMN00007806 | Oligo aCGH | Probe signal intensity | Pass |
essv6142469 | 9 | SAMN00007810 | Oligo aCGH | Probe signal intensity | Pass |
essv5772157 | 9 | SAMN00007825 | Oligo aCGH | Probe signal intensity | Pass |
essv6301538 | 9 | SAMN00007841 | Oligo aCGH | Probe signal intensity | Pass |
essv5918407 | 9 | SAMN00009154 | Oligo aCGH | Probe signal intensity | Pass |
essv6269624 | 9 | SAMN00009193 | Oligo aCGH | Probe signal intensity | Pass |
essv6507904 | 7 | SAMN00000414 | SNP array | Probe signal intensity | Pass |
essv6441911 | 7 | SAMN00000415 | SNP array | Probe signal intensity | Pass |
essv5539782 | 7 | SAMN00000475 | SNP array | Probe signal intensity | Pass |
essv6148486 | 7 | SAMN00000476 | SNP array | Probe signal intensity | Pass |
essv6010166 | 7 | SAMN00000477 | SNP array | Probe signal intensity | Pass |
essv6157350 | 7 | SAMN00000479 | SNP array | Probe signal intensity | Pass |
essv6592762 | 7 | SAMN00000481 | SNP array | Probe signal intensity | Pass |
essv6061126 | 7 | SAMN00000555 | SNP array | Probe signal intensity | Pass |
essv5662109 | 7 | SAMN00000568 | SNP array | Probe signal intensity | Pass |
essv6027937 | 7 | SAMN00001101 | SNP array | Probe signal intensity | Pass |
essv6350982 | 7 | SAMN00001103 | SNP array | Probe signal intensity | Pass |
essv5638336 | 7 | SAMN00001118 | SNP array | Probe signal intensity | Pass |
essv5830135 | 7 | SAMN00001129 | SNP array | Probe signal intensity | Pass |
essv6013560 | 7 | SAMN00001138 | SNP array | Probe signal intensity | Pass |
essv6064747 | 7 | SAMN00001140 | SNP array | Probe signal intensity | Pass |
essv6573176 | 7 | SAMN00001141 | SNP array | Probe signal intensity | Pass |
essv5850134 | 7 | SAMN00001155 | SNP array | Probe signal intensity | Pass |
essv5814870 | 7 | SAMN00001156 | SNP array | Probe signal intensity | Pass |
essv5732168 | 7 | SAMN00001157 | SNP array | Probe signal intensity | Pass |
essv6293073 | 7 | SAMN00001158 | SNP array | Probe signal intensity | Pass |
essv5840122 | 7 | SAMN00001159 | SNP array | Probe signal intensity | Pass |
essv5820069 | 7 | SAMN00001164 | SNP array | Probe signal intensity | Pass |
essv6405403 | 7 | SAMN00001167 | SNP array | Probe signal intensity | Pass |
essv6347523 | 7 | SAMN00001168 | SNP array | Probe signal intensity | Pass |
essv5765206 | 7 | SAMN00001170 | SNP array | Probe signal intensity | Pass |
essv6549052 | 7 | SAMN00001176 | SNP array | Probe signal intensity | Pass |
essv6494993 | 7 | SAMN00001180 | SNP array | Probe signal intensity | Pass |
essv5700184 | 7 | SAMN00001187 | SNP array | Probe signal intensity | Pass |
essv5478135 | 7 | SAMN00001188 | SNP array | Probe signal intensity | Pass |
essv6323102 | 7 | SAMN00001191 | SNP array | Probe signal intensity | Pass |
essv5853145 | 7 | SAMN00001194 | SNP array | Probe signal intensity | Pass |
essv5926164 | 7 | SAMN00001576 | SNP array | Probe signal intensity | Pass |
essv5708357 | 7 | SAMN00001579 | SNP array | Probe signal intensity | Pass |
essv6139906 | 7 | SAMN00001580 | SNP array | Probe signal intensity | Pass |
essv5439891 | 7 | SAMN00001584 | SNP array | Probe signal intensity | Pass |
essv5877737 | 7 | SAMN00001586 | SNP array | Probe signal intensity | Pass |
essv5990373 | 7 | SAMN00001592 | SNP array | Probe signal intensity | Pass |
essv5480885 | 7 | SAMN00001627 | SNP array | Probe signal intensity | Pass |
essv5619898 | 7 | SAMN00001629 | SNP array | Probe signal intensity | Pass |
essv5927375 | 7 | SAMN00001630 | SNP array | Probe signal intensity | Pass |
essv6440796 | 7 | SAMN00001665 | SNP array | Probe signal intensity | Pass |
essv5462841 | 7 | SAMN00001667 | SNP array | Probe signal intensity | Pass |
essv6364320 | 7 | SAMN00001684 | SNP array | Probe signal intensity | Pass |
essv5707530 | 7 | SAMN00001685 | SNP array | Probe signal intensity | Pass |
essv6074596 | 7 | SAMN00001694 | SNP array | Probe signal intensity | Pass |
essv6276370 | 7 | SAMN00004417 | SNP array | Probe signal intensity | Pass |
essv6592011 | 7 | SAMN00006484 | SNP array | Probe signal intensity | Pass |
essv5860633 | 7 | SAMN00007700 | SNP array | Probe signal intensity | Pass |
essv6338823 | 7 | SAMN00007735 | SNP array | Probe signal intensity | Pass |
essv5966486 | 7 | SAMN00007737 | SNP array | Probe signal intensity | Pass |
essv6525956 | 7 | SAMN00007738 | SNP array | Probe signal intensity | Pass |
essv6257912 | 7 | SAMN00007742 | SNP array | Probe signal intensity | Pass |
essv5921886 | 7 | SAMN00007743 | SNP array | Probe signal intensity | Pass |
essv5835064 | 7 | SAMN00007771 | SNP array | Probe signal intensity | Pass |
essv5713044 | 7 | SAMN00007806 | SNP array | Probe signal intensity | Pass |
essv6142469 | 7 | SAMN00007810 | SNP array | Probe signal intensity | Pass |
essv5772157 | 7 | SAMN00007825 | SNP array | Probe signal intensity | Pass |
essv6301538 | 7 | SAMN00007841 | SNP array | Probe signal intensity | Pass |
essv5918407 | 7 | SAMN00009154 | SNP array | Probe signal intensity | Pass |
essv6269624 | 7 | SAMN00009193 | SNP array | Probe signal intensity | Pass |