esv2657405
- Organism: Homo sapiens
- Study:estd199 (1000 Genomes Consortium Phase 1)
- Variant Type:copy number variation
- Method Type:Sequencing
- Submitted on:GRCh37 (hg19)
- Variant Calls:14
- Validation:Yes
- Clinical Assertions: No
- Region Size:22,948
- 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: 463 SVs from 70 studies. See in: genome view
Overlapping variant regions from other studies: 463 SVs from 70 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 |
---|---|---|---|---|---|---|---|---|---|---|---|
esv2657405 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000006.12 | Chr6 | 76,727,378 | 76,727,749 | 76,749,955 | 76,750,325 |
esv2657405 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000006.11 | Chr6 | 77,437,095 | 77,437,466 | 77,459,672 | 77,460,042 |
Variant Call Information
Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
---|---|---|---|---|---|
essv5540475 | deletion | SAMN00007729 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,132 |
essv5694602 | deletion | SAMN00007783 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 817 |
essv5743062 | deletion | SAMN00007782 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 817 |
essv5780694 | deletion | SAMN00007768 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 771 |
essv5845674 | deletion | SAMN00007786 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,118 |
essv5874722 | deletion | SAMN00007795 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 803 |
essv5979478 | deletion | SAMN00007767 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 862 |
essv6083371 | deletion | SAMN00007794 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 823 |
essv6141596 | deletion | SAMN00007752 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,122 |
essv6267044 | deletion | SAMN00007798 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,207 |
essv6295252 | deletion | SAMN00007723 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,255 |
essv6310962 | deletion | SAMN00007731 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,153 |
essv6384330 | deletion | SAMN00007717 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,210 |
essv6459369 | deletion | SAMN00007701 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,028 |
Variant Call Placement Information
Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Outer Start | Inner Start | Inner Stop | Outer Stop |
---|---|---|---|---|---|---|---|---|---|---|---|
essv5540475 | Remapped | Perfect | NC_000006.12:g.(76 727378_76727749)_( 76749955_76750325) del | GRCh38.p12 | First Pass | NC_000006.12 | Chr6 | 76,727,378 | 76,727,749 | 76,749,955 | 76,750,325 |
essv5694602 | Remapped | Perfect | NC_000006.12:g.(76 727378_76727749)_( 76749955_76750325) del | GRCh38.p12 | First Pass | NC_000006.12 | Chr6 | 76,727,378 | 76,727,749 | 76,749,955 | 76,750,325 |
essv5743062 | Remapped | Perfect | NC_000006.12:g.(76 727378_76727749)_( 76749955_76750325) del | GRCh38.p12 | First Pass | NC_000006.12 | Chr6 | 76,727,378 | 76,727,749 | 76,749,955 | 76,750,325 |
essv5780694 | Remapped | Perfect | NC_000006.12:g.(76 727378_76727749)_( 76749955_76750325) del | GRCh38.p12 | First Pass | NC_000006.12 | Chr6 | 76,727,378 | 76,727,749 | 76,749,955 | 76,750,325 |
essv5845674 | Remapped | Perfect | NC_000006.12:g.(76 727378_76727749)_( 76749955_76750325) del | GRCh38.p12 | First Pass | NC_000006.12 | Chr6 | 76,727,378 | 76,727,749 | 76,749,955 | 76,750,325 |
essv5874722 | Remapped | Perfect | NC_000006.12:g.(76 727378_76727749)_( 76749955_76750325) del | GRCh38.p12 | First Pass | NC_000006.12 | Chr6 | 76,727,378 | 76,727,749 | 76,749,955 | 76,750,325 |
essv5979478 | Remapped | Perfect | NC_000006.12:g.(76 727378_76727749)_( 76749955_76750325) del | GRCh38.p12 | First Pass | NC_000006.12 | Chr6 | 76,727,378 | 76,727,749 | 76,749,955 | 76,750,325 |
essv6083371 | Remapped | Perfect | NC_000006.12:g.(76 727378_76727749)_( 76749955_76750325) del | GRCh38.p12 | First Pass | NC_000006.12 | Chr6 | 76,727,378 | 76,727,749 | 76,749,955 | 76,750,325 |
essv6141596 | Remapped | Perfect | NC_000006.12:g.(76 727378_76727749)_( 76749955_76750325) del | GRCh38.p12 | First Pass | NC_000006.12 | Chr6 | 76,727,378 | 76,727,749 | 76,749,955 | 76,750,325 |
essv6267044 | Remapped | Perfect | NC_000006.12:g.(76 727378_76727749)_( 76749955_76750325) del | GRCh38.p12 | First Pass | NC_000006.12 | Chr6 | 76,727,378 | 76,727,749 | 76,749,955 | 76,750,325 |
essv6295252 | Remapped | Perfect | NC_000006.12:g.(76 727378_76727749)_( 76749955_76750325) del | GRCh38.p12 | First Pass | NC_000006.12 | Chr6 | 76,727,378 | 76,727,749 | 76,749,955 | 76,750,325 |
essv6310962 | Remapped | Perfect | NC_000006.12:g.(76 727378_76727749)_( 76749955_76750325) del | GRCh38.p12 | First Pass | NC_000006.12 | Chr6 | 76,727,378 | 76,727,749 | 76,749,955 | 76,750,325 |
essv6384330 | Remapped | Perfect | NC_000006.12:g.(76 727378_76727749)_( 76749955_76750325) del | GRCh38.p12 | First Pass | NC_000006.12 | Chr6 | 76,727,378 | 76,727,749 | 76,749,955 | 76,750,325 |
essv6459369 | Remapped | Perfect | NC_000006.12:g.(76 727378_76727749)_( 76749955_76750325) del | GRCh38.p12 | First Pass | NC_000006.12 | Chr6 | 76,727,378 | 76,727,749 | 76,749,955 | 76,750,325 |
essv5540475 | Submitted genomic | NC_000006.11:g.(77 437095_77437466)_( 77459672_77460042) del | GRCh37 (hg19) | NC_000006.11 | Chr6 | 77,437,095 | 77,437,466 | 77,459,672 | 77,460,042 | ||
essv5694602 | Submitted genomic | NC_000006.11:g.(77 437095_77437466)_( 77459672_77460042) del | GRCh37 (hg19) | NC_000006.11 | Chr6 | 77,437,095 | 77,437,466 | 77,459,672 | 77,460,042 | ||
essv5743062 | Submitted genomic | NC_000006.11:g.(77 437095_77437466)_( 77459672_77460042) del | GRCh37 (hg19) | NC_000006.11 | Chr6 | 77,437,095 | 77,437,466 | 77,459,672 | 77,460,042 | ||
essv5780694 | Submitted genomic | NC_000006.11:g.(77 437095_77437466)_( 77459672_77460042) del | GRCh37 (hg19) | NC_000006.11 | Chr6 | 77,437,095 | 77,437,466 | 77,459,672 | 77,460,042 | ||
essv5845674 | Submitted genomic | NC_000006.11:g.(77 437095_77437466)_( 77459672_77460042) del | GRCh37 (hg19) | NC_000006.11 | Chr6 | 77,437,095 | 77,437,466 | 77,459,672 | 77,460,042 | ||
essv5874722 | Submitted genomic | NC_000006.11:g.(77 437095_77437466)_( 77459672_77460042) del | GRCh37 (hg19) | NC_000006.11 | Chr6 | 77,437,095 | 77,437,466 | 77,459,672 | 77,460,042 | ||
essv5979478 | Submitted genomic | NC_000006.11:g.(77 437095_77437466)_( 77459672_77460042) del | GRCh37 (hg19) | NC_000006.11 | Chr6 | 77,437,095 | 77,437,466 | 77,459,672 | 77,460,042 | ||
essv6083371 | Submitted genomic | NC_000006.11:g.(77 437095_77437466)_( 77459672_77460042) del | GRCh37 (hg19) | NC_000006.11 | Chr6 | 77,437,095 | 77,437,466 | 77,459,672 | 77,460,042 | ||
essv6141596 | Submitted genomic | NC_000006.11:g.(77 437095_77437466)_( 77459672_77460042) del | GRCh37 (hg19) | NC_000006.11 | Chr6 | 77,437,095 | 77,437,466 | 77,459,672 | 77,460,042 | ||
essv6267044 | Submitted genomic | NC_000006.11:g.(77 437095_77437466)_( 77459672_77460042) del | GRCh37 (hg19) | NC_000006.11 | Chr6 | 77,437,095 | 77,437,466 | 77,459,672 | 77,460,042 | ||
essv6295252 | Submitted genomic | NC_000006.11:g.(77 437095_77437466)_( 77459672_77460042) del | GRCh37 (hg19) | NC_000006.11 | Chr6 | 77,437,095 | 77,437,466 | 77,459,672 | 77,460,042 | ||
essv6310962 | Submitted genomic | NC_000006.11:g.(77 437095_77437466)_( 77459672_77460042) del | GRCh37 (hg19) | NC_000006.11 | Chr6 | 77,437,095 | 77,437,466 | 77,459,672 | 77,460,042 | ||
essv6384330 | Submitted genomic | NC_000006.11:g.(77 437095_77437466)_( 77459672_77460042) del | GRCh37 (hg19) | NC_000006.11 | Chr6 | 77,437,095 | 77,437,466 | 77,459,672 | 77,460,042 | ||
essv6459369 | Submitted genomic | NC_000006.11:g.(77 437095_77437466)_( 77459672_77460042) del | GRCh37 (hg19) | NC_000006.11 | Chr6 | 77,437,095 | 77,437,466 | 77,459,672 | 77,460,042 |
Validation Information
Variant Call ID | Experiment ID | Sample ID | Method | Analysis | Result |
---|---|---|---|---|---|
essv6459369 | 7 | SAMN00007701 | SNP array | Probe signal intensity | Pass |
essv6384330 | 7 | SAMN00007717 | SNP array | Probe signal intensity | Pass |
essv6295252 | 7 | SAMN00007723 | SNP array | Probe signal intensity | Pass |
essv5540475 | 7 | SAMN00007729 | SNP array | Probe signal intensity | Pass |
essv6310962 | 7 | SAMN00007731 | SNP array | Probe signal intensity | Pass |
essv6141596 | 7 | SAMN00007752 | SNP array | Probe signal intensity | Pass |
essv5979478 | 7 | SAMN00007767 | SNP array | Probe signal intensity | Pass |
essv5780694 | 7 | SAMN00007768 | SNP array | Probe signal intensity | Pass |
essv5743062 | 7 | SAMN00007782 | SNP array | Probe signal intensity | Pass |
essv5694602 | 7 | SAMN00007783 | SNP array | Probe signal intensity | Pass |
essv5845674 | 7 | SAMN00007786 | SNP array | Probe signal intensity | Pass |
essv6083371 | 7 | SAMN00007794 | SNP array | Probe signal intensity | Pass |
essv5874722 | 7 | SAMN00007795 | SNP array | Probe signal intensity | Pass |
essv6267044 | 7 | SAMN00007798 | SNP array | Probe signal intensity | Pass |