esv2674705
- Organism: Homo sapiens
- Study:estd199 (1000 Genomes Consortium Phase 1)
- Variant Type:copy number variation
- Method Type:Sequencing
- Submitted on:GRCh37 (hg19)
- Variant Calls:19
- Validation:Yes
- Clinical Assertions: No
- Region Size:12,720
- 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: 939 SVs from 73 studies. See in: genome view
Overlapping variant regions from other studies: 939 SVs from 73 studies. See in: genome view
Variant Region Placement Information
Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Outer Start | Inner Start | Inner Stop | Outer Stop |
---|---|---|---|---|---|---|---|---|---|---|---|
esv2674705 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000005.10 | Chr5 | 17,637,597 | 17,637,754 | 17,650,163 | 17,650,316 |
esv2674705 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000005.9 | Chr5 | 17,637,706 | 17,637,863 | 17,650,272 | 17,650,425 |
Variant Call Information
Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
---|---|---|---|---|---|
essv5446950 | deletion | SAMN00006552 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,667 |
essv5492590 | deletion | SAMN00004689 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,655 |
essv5547238 | deletion | SAMN00006472 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,467 |
essv5702295 | deletion | SAMN00001620 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,235 |
essv5805732 | deletion | SAMN00006549 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,666 |
essv5869554 | deletion | SAMN00006480 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,600 |
essv5892613 | deletion | SAMN00006475 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,638 |
essv5944771 | deletion | SAMN00007814 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,162 |
essv6082761 | deletion | SAMN00006514 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,671 |
essv6099041 | deletion | SAMN00006571 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,708 |
essv6182012 | deletion | SAMN00000455 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,599 |
essv6308488 | deletion | SAMN00000433 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,612 |
essv6350677 | deletion | SAMN00006469 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,602 |
essv6351171 | deletion | SAMN00006456 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,686 |
essv6390785 | deletion | SAMN00004696 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,778 |
essv6406470 | deletion | SAMN00001029 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,237 |
essv6474915 | deletion | SAMN00004690 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,700 |
essv6576254 | deletion | SAMN00000437 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,589 |
essv6586093 | deletion | SAMN00000923 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,015 |
Variant Call Placement Information
Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Outer Start | Inner Start | Inner Stop | Outer Stop |
---|---|---|---|---|---|---|---|---|---|---|---|
essv5446950 | Remapped | Perfect | NC_000005.10:g.(17 637597_17637754)_( 17650163_17650316) del | GRCh38.p12 | First Pass | NC_000005.10 | Chr5 | 17,637,597 | 17,637,754 | 17,650,163 | 17,650,316 |
essv5492590 | Remapped | Perfect | NC_000005.10:g.(17 637597_17637754)_( 17650163_17650316) del | GRCh38.p12 | First Pass | NC_000005.10 | Chr5 | 17,637,597 | 17,637,754 | 17,650,163 | 17,650,316 |
essv5547238 | Remapped | Perfect | NC_000005.10:g.(17 637597_17637754)_( 17650163_17650316) del | GRCh38.p12 | First Pass | NC_000005.10 | Chr5 | 17,637,597 | 17,637,754 | 17,650,163 | 17,650,316 |
essv5702295 | Remapped | Perfect | NC_000005.10:g.(17 637597_17637754)_( 17650163_17650316) del | GRCh38.p12 | First Pass | NC_000005.10 | Chr5 | 17,637,597 | 17,637,754 | 17,650,163 | 17,650,316 |
essv5805732 | Remapped | Perfect | NC_000005.10:g.(17 637597_17637754)_( 17650163_17650316) del | GRCh38.p12 | First Pass | NC_000005.10 | Chr5 | 17,637,597 | 17,637,754 | 17,650,163 | 17,650,316 |
essv5869554 | Remapped | Perfect | NC_000005.10:g.(17 637597_17637754)_( 17650163_17650316) del | GRCh38.p12 | First Pass | NC_000005.10 | Chr5 | 17,637,597 | 17,637,754 | 17,650,163 | 17,650,316 |
essv5892613 | Remapped | Perfect | NC_000005.10:g.(17 637597_17637754)_( 17650163_17650316) del | GRCh38.p12 | First Pass | NC_000005.10 | Chr5 | 17,637,597 | 17,637,754 | 17,650,163 | 17,650,316 |
essv5944771 | Remapped | Perfect | NC_000005.10:g.(17 637597_17637754)_( 17650163_17650316) del | GRCh38.p12 | First Pass | NC_000005.10 | Chr5 | 17,637,597 | 17,637,754 | 17,650,163 | 17,650,316 |
essv6082761 | Remapped | Perfect | NC_000005.10:g.(17 637597_17637754)_( 17650163_17650316) del | GRCh38.p12 | First Pass | NC_000005.10 | Chr5 | 17,637,597 | 17,637,754 | 17,650,163 | 17,650,316 |
essv6099041 | Remapped | Perfect | NC_000005.10:g.(17 637597_17637754)_( 17650163_17650316) del | GRCh38.p12 | First Pass | NC_000005.10 | Chr5 | 17,637,597 | 17,637,754 | 17,650,163 | 17,650,316 |
essv6182012 | Remapped | Perfect | NC_000005.10:g.(17 637597_17637754)_( 17650163_17650316) del | GRCh38.p12 | First Pass | NC_000005.10 | Chr5 | 17,637,597 | 17,637,754 | 17,650,163 | 17,650,316 |
essv6308488 | Remapped | Perfect | NC_000005.10:g.(17 637597_17637754)_( 17650163_17650316) del | GRCh38.p12 | First Pass | NC_000005.10 | Chr5 | 17,637,597 | 17,637,754 | 17,650,163 | 17,650,316 |
essv6350677 | Remapped | Perfect | NC_000005.10:g.(17 637597_17637754)_( 17650163_17650316) del | GRCh38.p12 | First Pass | NC_000005.10 | Chr5 | 17,637,597 | 17,637,754 | 17,650,163 | 17,650,316 |
essv6351171 | Remapped | Perfect | NC_000005.10:g.(17 637597_17637754)_( 17650163_17650316) del | GRCh38.p12 | First Pass | NC_000005.10 | Chr5 | 17,637,597 | 17,637,754 | 17,650,163 | 17,650,316 |
essv6390785 | Remapped | Perfect | NC_000005.10:g.(17 637597_17637754)_( 17650163_17650316) del | GRCh38.p12 | First Pass | NC_000005.10 | Chr5 | 17,637,597 | 17,637,754 | 17,650,163 | 17,650,316 |
essv6406470 | Remapped | Perfect | NC_000005.10:g.(17 637597_17637754)_( 17650163_17650316) del | GRCh38.p12 | First Pass | NC_000005.10 | Chr5 | 17,637,597 | 17,637,754 | 17,650,163 | 17,650,316 |
essv6474915 | Remapped | Perfect | NC_000005.10:g.(17 637597_17637754)_( 17650163_17650316) del | GRCh38.p12 | First Pass | NC_000005.10 | Chr5 | 17,637,597 | 17,637,754 | 17,650,163 | 17,650,316 |
essv6576254 | Remapped | Perfect | NC_000005.10:g.(17 637597_17637754)_( 17650163_17650316) del | GRCh38.p12 | First Pass | NC_000005.10 | Chr5 | 17,637,597 | 17,637,754 | 17,650,163 | 17,650,316 |
essv6586093 | Remapped | Perfect | NC_000005.10:g.(17 637597_17637754)_( 17650163_17650316) del | GRCh38.p12 | First Pass | NC_000005.10 | Chr5 | 17,637,597 | 17,637,754 | 17,650,163 | 17,650,316 |
essv5446950 | Submitted genomic | NC_000005.9:g.(176 37706_17637863)_(1 7650272_17650425)d el | GRCh37 (hg19) | NC_000005.9 | Chr5 | 17,637,706 | 17,637,863 | 17,650,272 | 17,650,425 | ||
essv5492590 | Submitted genomic | NC_000005.9:g.(176 37706_17637863)_(1 7650272_17650425)d el | GRCh37 (hg19) | NC_000005.9 | Chr5 | 17,637,706 | 17,637,863 | 17,650,272 | 17,650,425 | ||
essv5547238 | Submitted genomic | NC_000005.9:g.(176 37706_17637863)_(1 7650272_17650425)d el | GRCh37 (hg19) | NC_000005.9 | Chr5 | 17,637,706 | 17,637,863 | 17,650,272 | 17,650,425 | ||
essv5702295 | Submitted genomic | NC_000005.9:g.(176 37706_17637863)_(1 7650272_17650425)d el | GRCh37 (hg19) | NC_000005.9 | Chr5 | 17,637,706 | 17,637,863 | 17,650,272 | 17,650,425 | ||
essv5805732 | Submitted genomic | NC_000005.9:g.(176 37706_17637863)_(1 7650272_17650425)d el | GRCh37 (hg19) | NC_000005.9 | Chr5 | 17,637,706 | 17,637,863 | 17,650,272 | 17,650,425 | ||
essv5869554 | Submitted genomic | NC_000005.9:g.(176 37706_17637863)_(1 7650272_17650425)d el | GRCh37 (hg19) | NC_000005.9 | Chr5 | 17,637,706 | 17,637,863 | 17,650,272 | 17,650,425 | ||
essv5892613 | Submitted genomic | NC_000005.9:g.(176 37706_17637863)_(1 7650272_17650425)d el | GRCh37 (hg19) | NC_000005.9 | Chr5 | 17,637,706 | 17,637,863 | 17,650,272 | 17,650,425 | ||
essv5944771 | Submitted genomic | NC_000005.9:g.(176 37706_17637863)_(1 7650272_17650425)d el | GRCh37 (hg19) | NC_000005.9 | Chr5 | 17,637,706 | 17,637,863 | 17,650,272 | 17,650,425 | ||
essv6082761 | Submitted genomic | NC_000005.9:g.(176 37706_17637863)_(1 7650272_17650425)d el | GRCh37 (hg19) | NC_000005.9 | Chr5 | 17,637,706 | 17,637,863 | 17,650,272 | 17,650,425 | ||
essv6099041 | Submitted genomic | NC_000005.9:g.(176 37706_17637863)_(1 7650272_17650425)d el | GRCh37 (hg19) | NC_000005.9 | Chr5 | 17,637,706 | 17,637,863 | 17,650,272 | 17,650,425 | ||
essv6182012 | Submitted genomic | NC_000005.9:g.(176 37706_17637863)_(1 7650272_17650425)d el | GRCh37 (hg19) | NC_000005.9 | Chr5 | 17,637,706 | 17,637,863 | 17,650,272 | 17,650,425 | ||
essv6308488 | Submitted genomic | NC_000005.9:g.(176 37706_17637863)_(1 7650272_17650425)d el | GRCh37 (hg19) | NC_000005.9 | Chr5 | 17,637,706 | 17,637,863 | 17,650,272 | 17,650,425 | ||
essv6350677 | Submitted genomic | NC_000005.9:g.(176 37706_17637863)_(1 7650272_17650425)d el | GRCh37 (hg19) | NC_000005.9 | Chr5 | 17,637,706 | 17,637,863 | 17,650,272 | 17,650,425 | ||
essv6351171 | Submitted genomic | NC_000005.9:g.(176 37706_17637863)_(1 7650272_17650425)d el | GRCh37 (hg19) | NC_000005.9 | Chr5 | 17,637,706 | 17,637,863 | 17,650,272 | 17,650,425 | ||
essv6390785 | Submitted genomic | NC_000005.9:g.(176 37706_17637863)_(1 7650272_17650425)d el | GRCh37 (hg19) | NC_000005.9 | Chr5 | 17,637,706 | 17,637,863 | 17,650,272 | 17,650,425 | ||
essv6406470 | Submitted genomic | NC_000005.9:g.(176 37706_17637863)_(1 7650272_17650425)d el | GRCh37 (hg19) | NC_000005.9 | Chr5 | 17,637,706 | 17,637,863 | 17,650,272 | 17,650,425 | ||
essv6474915 | Submitted genomic | NC_000005.9:g.(176 37706_17637863)_(1 7650272_17650425)d el | GRCh37 (hg19) | NC_000005.9 | Chr5 | 17,637,706 | 17,637,863 | 17,650,272 | 17,650,425 | ||
essv6576254 | Submitted genomic | NC_000005.9:g.(176 37706_17637863)_(1 7650272_17650425)d el | GRCh37 (hg19) | NC_000005.9 | Chr5 | 17,637,706 | 17,637,863 | 17,650,272 | 17,650,425 | ||
essv6586093 | Submitted genomic | NC_000005.9:g.(176 37706_17637863)_(1 7650272_17650425)d el | GRCh37 (hg19) | NC_000005.9 | Chr5 | 17,637,706 | 17,637,863 | 17,650,272 | 17,650,425 |
Validation Information
Variant Call ID | Experiment ID | Sample ID | Method | Analysis | Result |
---|---|---|---|---|---|
essv6308488 | 9 | SAMN00000433 | Oligo aCGH | Probe signal intensity | Pass |
essv6576254 | 9 | SAMN00000437 | Oligo aCGH | Probe signal intensity | Pass |
essv6182012 | 9 | SAMN00000455 | Oligo aCGH | Probe signal intensity | Pass |
essv6586093 | 9 | SAMN00000923 | Oligo aCGH | Probe signal intensity | Pass |
essv6406470 | 9 | SAMN00001029 | Oligo aCGH | Probe signal intensity | Pass |
essv5702295 | 9 | SAMN00001620 | Oligo aCGH | Probe signal intensity | Pass |
essv5492590 | 9 | SAMN00004689 | Oligo aCGH | Probe signal intensity | Pass |
essv6474915 | 9 | SAMN00004690 | Oligo aCGH | Probe signal intensity | Pass |
essv6390785 | 9 | SAMN00004696 | Oligo aCGH | Probe signal intensity | Pass |
essv6351171 | 9 | SAMN00006456 | Oligo aCGH | Probe signal intensity | Pass |
essv6350677 | 9 | SAMN00006469 | Oligo aCGH | Probe signal intensity | Pass |
essv5547238 | 9 | SAMN00006472 | Oligo aCGH | Probe signal intensity | Pass |
essv5892613 | 9 | SAMN00006475 | Oligo aCGH | Probe signal intensity | Pass |
essv5869554 | 9 | SAMN00006480 | Oligo aCGH | Probe signal intensity | Pass |
essv6082761 | 9 | SAMN00006514 | Oligo aCGH | Probe signal intensity | Pass |
essv5805732 | 9 | SAMN00006549 | Oligo aCGH | Probe signal intensity | Pass |
essv5446950 | 9 | SAMN00006552 | Oligo aCGH | Probe signal intensity | Pass |
essv6099041 | 9 | SAMN00006571 | Oligo aCGH | Probe signal intensity | Pass |
essv5944771 | 9 | SAMN00007814 | Oligo aCGH | Probe signal intensity | Pass |
essv6308488 | 7 | SAMN00000433 | SNP array | Probe signal intensity | Pass |
essv6576254 | 7 | SAMN00000437 | SNP array | Probe signal intensity | Pass |
essv6182012 | 7 | SAMN00000455 | SNP array | Probe signal intensity | Pass |
essv6586093 | 7 | SAMN00000923 | SNP array | Probe signal intensity | Pass |
essv6406470 | 7 | SAMN00001029 | SNP array | Probe signal intensity | Pass |
essv5702295 | 7 | SAMN00001620 | SNP array | Probe signal intensity | Pass |
essv5492590 | 7 | SAMN00004689 | SNP array | Probe signal intensity | Pass |
essv6474915 | 7 | SAMN00004690 | SNP array | Probe signal intensity | Pass |
essv6390785 | 7 | SAMN00004696 | SNP array | Probe signal intensity | Pass |
essv6351171 | 7 | SAMN00006456 | SNP array | Probe signal intensity | Pass |
essv6350677 | 7 | SAMN00006469 | SNP array | Probe signal intensity | Pass |
essv5547238 | 7 | SAMN00006472 | SNP array | Probe signal intensity | Pass |
essv5892613 | 7 | SAMN00006475 | SNP array | Probe signal intensity | Pass |
essv5869554 | 7 | SAMN00006480 | SNP array | Probe signal intensity | Pass |
essv6082761 | 7 | SAMN00006514 | SNP array | Probe signal intensity | Pass |
essv5805732 | 7 | SAMN00006549 | SNP array | Probe signal intensity | Pass |
essv5446950 | 7 | SAMN00006552 | SNP array | Probe signal intensity | Pass |
essv6099041 | 7 | SAMN00006571 | SNP array | Probe signal intensity | Pass |
essv5944771 | 7 | SAMN00007814 | SNP array | Probe signal intensity | Pass |