esv2660674
- Organism: Homo sapiens
- Study:estd199 (1000 Genomes Consortium Phase 1)
- Variant Type:copy number variation
- Method Type:Sequencing
- Submitted on:GRCh37 (hg19)
- Variant Calls:20
- Validation:Yes
- Clinical Assertions: No
- Region Size:17,548
- 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: 369 SVs from 57 studies. See in: genome view
Overlapping variant regions from other studies: 369 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 | Outer Start | Inner Start | Inner Stop | Outer Stop |
---|---|---|---|---|---|---|---|---|---|---|---|
esv2660674 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000018.10 | Chr18 | 14,550,246 | 14,550,617 | 14,567,423 | 14,567,793 |
esv2660674 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000018.9 | Chr18 | 14,550,245 | 14,550,616 | 14,567,422 | 14,567,792 |
Variant Call Information
Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
---|---|---|---|---|---|
essv5467490 | deletion | SAMN00000541 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 985 |
essv5544185 | deletion | SAMN00001032 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 996 |
essv5593536 | deletion | SAMN00001031 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,188 |
essv5671271 | deletion | SAMN00000540 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,075 |
essv5726397 | deletion | SAMN00000510 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,141 |
essv5765594 | deletion | SAMN00001648 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,343 |
essv5783151 | deletion | SAMN00000527 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,055 |
essv5822230 | deletion | SAMN00001037 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,232 |
essv5842778 | deletion | SAMN00000526 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,188 |
essv5922781 | deletion | SAMN00000506 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,170 |
essv6022893 | deletion | SAMN00001635 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,158 |
essv6126772 | deletion | SAMN00000520 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,026 |
essv6200133 | deletion | SAMN00001029 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,237 |
essv6228866 | deletion | SAMN00001657 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 793 |
essv6267184 | deletion | SAMN00001662 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,153 |
essv6308005 | deletion | SAMN00001034 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,111 |
essv6441302 | deletion | SAMN00000531 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,112 |
essv6472667 | deletion | SAMN00000512 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,038 |
essv6516596 | deletion | SAMN00001649 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,053 |
essv6567755 | deletion | SAMN00000492 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,125 |
Variant Call Placement Information
Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Outer Start | Inner Start | Inner Stop | Outer Stop |
---|---|---|---|---|---|---|---|---|---|---|---|
essv5467490 | Remapped | Perfect | NC_000018.10:g.(14 550246_14550617)_( 14567423_14567793) del | GRCh38.p12 | First Pass | NC_000018.10 | Chr18 | 14,550,246 | 14,550,617 | 14,567,423 | 14,567,793 |
essv5544185 | Remapped | Perfect | NC_000018.10:g.(14 550246_14550617)_( 14567423_14567793) del | GRCh38.p12 | First Pass | NC_000018.10 | Chr18 | 14,550,246 | 14,550,617 | 14,567,423 | 14,567,793 |
essv5593536 | Remapped | Perfect | NC_000018.10:g.(14 550246_14550617)_( 14567423_14567793) del | GRCh38.p12 | First Pass | NC_000018.10 | Chr18 | 14,550,246 | 14,550,617 | 14,567,423 | 14,567,793 |
essv5671271 | Remapped | Perfect | NC_000018.10:g.(14 550246_14550617)_( 14567423_14567793) del | GRCh38.p12 | First Pass | NC_000018.10 | Chr18 | 14,550,246 | 14,550,617 | 14,567,423 | 14,567,793 |
essv5726397 | Remapped | Perfect | NC_000018.10:g.(14 550246_14550617)_( 14567423_14567793) del | GRCh38.p12 | First Pass | NC_000018.10 | Chr18 | 14,550,246 | 14,550,617 | 14,567,423 | 14,567,793 |
essv5765594 | Remapped | Perfect | NC_000018.10:g.(14 550246_14550617)_( 14567423_14567793) del | GRCh38.p12 | First Pass | NC_000018.10 | Chr18 | 14,550,246 | 14,550,617 | 14,567,423 | 14,567,793 |
essv5783151 | Remapped | Perfect | NC_000018.10:g.(14 550246_14550617)_( 14567423_14567793) del | GRCh38.p12 | First Pass | NC_000018.10 | Chr18 | 14,550,246 | 14,550,617 | 14,567,423 | 14,567,793 |
essv5822230 | Remapped | Perfect | NC_000018.10:g.(14 550246_14550617)_( 14567423_14567793) del | GRCh38.p12 | First Pass | NC_000018.10 | Chr18 | 14,550,246 | 14,550,617 | 14,567,423 | 14,567,793 |
essv5842778 | Remapped | Perfect | NC_000018.10:g.(14 550246_14550617)_( 14567423_14567793) del | GRCh38.p12 | First Pass | NC_000018.10 | Chr18 | 14,550,246 | 14,550,617 | 14,567,423 | 14,567,793 |
essv5922781 | Remapped | Perfect | NC_000018.10:g.(14 550246_14550617)_( 14567423_14567793) del | GRCh38.p12 | First Pass | NC_000018.10 | Chr18 | 14,550,246 | 14,550,617 | 14,567,423 | 14,567,793 |
essv6022893 | Remapped | Perfect | NC_000018.10:g.(14 550246_14550617)_( 14567423_14567793) del | GRCh38.p12 | First Pass | NC_000018.10 | Chr18 | 14,550,246 | 14,550,617 | 14,567,423 | 14,567,793 |
essv6126772 | Remapped | Perfect | NC_000018.10:g.(14 550246_14550617)_( 14567423_14567793) del | GRCh38.p12 | First Pass | NC_000018.10 | Chr18 | 14,550,246 | 14,550,617 | 14,567,423 | 14,567,793 |
essv6200133 | Remapped | Perfect | NC_000018.10:g.(14 550246_14550617)_( 14567423_14567793) del | GRCh38.p12 | First Pass | NC_000018.10 | Chr18 | 14,550,246 | 14,550,617 | 14,567,423 | 14,567,793 |
essv6228866 | Remapped | Perfect | NC_000018.10:g.(14 550246_14550617)_( 14567423_14567793) del | GRCh38.p12 | First Pass | NC_000018.10 | Chr18 | 14,550,246 | 14,550,617 | 14,567,423 | 14,567,793 |
essv6267184 | Remapped | Perfect | NC_000018.10:g.(14 550246_14550617)_( 14567423_14567793) del | GRCh38.p12 | First Pass | NC_000018.10 | Chr18 | 14,550,246 | 14,550,617 | 14,567,423 | 14,567,793 |
essv6308005 | Remapped | Perfect | NC_000018.10:g.(14 550246_14550617)_( 14567423_14567793) del | GRCh38.p12 | First Pass | NC_000018.10 | Chr18 | 14,550,246 | 14,550,617 | 14,567,423 | 14,567,793 |
essv6441302 | Remapped | Perfect | NC_000018.10:g.(14 550246_14550617)_( 14567423_14567793) del | GRCh38.p12 | First Pass | NC_000018.10 | Chr18 | 14,550,246 | 14,550,617 | 14,567,423 | 14,567,793 |
essv6472667 | Remapped | Perfect | NC_000018.10:g.(14 550246_14550617)_( 14567423_14567793) del | GRCh38.p12 | First Pass | NC_000018.10 | Chr18 | 14,550,246 | 14,550,617 | 14,567,423 | 14,567,793 |
essv6516596 | Remapped | Perfect | NC_000018.10:g.(14 550246_14550617)_( 14567423_14567793) del | GRCh38.p12 | First Pass | NC_000018.10 | Chr18 | 14,550,246 | 14,550,617 | 14,567,423 | 14,567,793 |
essv6567755 | Remapped | Perfect | NC_000018.10:g.(14 550246_14550617)_( 14567423_14567793) del | GRCh38.p12 | First Pass | NC_000018.10 | Chr18 | 14,550,246 | 14,550,617 | 14,567,423 | 14,567,793 |
essv5467490 | Submitted genomic | NC_000018.9:g.(145 50245_14550616)_(1 4567422_14567792)d el | GRCh37 (hg19) | NC_000018.9 | Chr18 | 14,550,245 | 14,550,616 | 14,567,422 | 14,567,792 | ||
essv5544185 | Submitted genomic | NC_000018.9:g.(145 50245_14550616)_(1 4567422_14567792)d el | GRCh37 (hg19) | NC_000018.9 | Chr18 | 14,550,245 | 14,550,616 | 14,567,422 | 14,567,792 | ||
essv5593536 | Submitted genomic | NC_000018.9:g.(145 50245_14550616)_(1 4567422_14567792)d el | GRCh37 (hg19) | NC_000018.9 | Chr18 | 14,550,245 | 14,550,616 | 14,567,422 | 14,567,792 | ||
essv5671271 | Submitted genomic | NC_000018.9:g.(145 50245_14550616)_(1 4567422_14567792)d el | GRCh37 (hg19) | NC_000018.9 | Chr18 | 14,550,245 | 14,550,616 | 14,567,422 | 14,567,792 | ||
essv5726397 | Submitted genomic | NC_000018.9:g.(145 50245_14550616)_(1 4567422_14567792)d el | GRCh37 (hg19) | NC_000018.9 | Chr18 | 14,550,245 | 14,550,616 | 14,567,422 | 14,567,792 | ||
essv5765594 | Submitted genomic | NC_000018.9:g.(145 50245_14550616)_(1 4567422_14567792)d el | GRCh37 (hg19) | NC_000018.9 | Chr18 | 14,550,245 | 14,550,616 | 14,567,422 | 14,567,792 | ||
essv5783151 | Submitted genomic | NC_000018.9:g.(145 50245_14550616)_(1 4567422_14567792)d el | GRCh37 (hg19) | NC_000018.9 | Chr18 | 14,550,245 | 14,550,616 | 14,567,422 | 14,567,792 | ||
essv5822230 | Submitted genomic | NC_000018.9:g.(145 50245_14550616)_(1 4567422_14567792)d el | GRCh37 (hg19) | NC_000018.9 | Chr18 | 14,550,245 | 14,550,616 | 14,567,422 | 14,567,792 | ||
essv5842778 | Submitted genomic | NC_000018.9:g.(145 50245_14550616)_(1 4567422_14567792)d el | GRCh37 (hg19) | NC_000018.9 | Chr18 | 14,550,245 | 14,550,616 | 14,567,422 | 14,567,792 | ||
essv5922781 | Submitted genomic | NC_000018.9:g.(145 50245_14550616)_(1 4567422_14567792)d el | GRCh37 (hg19) | NC_000018.9 | Chr18 | 14,550,245 | 14,550,616 | 14,567,422 | 14,567,792 | ||
essv6022893 | Submitted genomic | NC_000018.9:g.(145 50245_14550616)_(1 4567422_14567792)d el | GRCh37 (hg19) | NC_000018.9 | Chr18 | 14,550,245 | 14,550,616 | 14,567,422 | 14,567,792 | ||
essv6126772 | Submitted genomic | NC_000018.9:g.(145 50245_14550616)_(1 4567422_14567792)d el | GRCh37 (hg19) | NC_000018.9 | Chr18 | 14,550,245 | 14,550,616 | 14,567,422 | 14,567,792 | ||
essv6200133 | Submitted genomic | NC_000018.9:g.(145 50245_14550616)_(1 4567422_14567792)d el | GRCh37 (hg19) | NC_000018.9 | Chr18 | 14,550,245 | 14,550,616 | 14,567,422 | 14,567,792 | ||
essv6228866 | Submitted genomic | NC_000018.9:g.(145 50245_14550616)_(1 4567422_14567792)d el | GRCh37 (hg19) | NC_000018.9 | Chr18 | 14,550,245 | 14,550,616 | 14,567,422 | 14,567,792 | ||
essv6267184 | Submitted genomic | NC_000018.9:g.(145 50245_14550616)_(1 4567422_14567792)d el | GRCh37 (hg19) | NC_000018.9 | Chr18 | 14,550,245 | 14,550,616 | 14,567,422 | 14,567,792 | ||
essv6308005 | Submitted genomic | NC_000018.9:g.(145 50245_14550616)_(1 4567422_14567792)d el | GRCh37 (hg19) | NC_000018.9 | Chr18 | 14,550,245 | 14,550,616 | 14,567,422 | 14,567,792 | ||
essv6441302 | Submitted genomic | NC_000018.9:g.(145 50245_14550616)_(1 4567422_14567792)d el | GRCh37 (hg19) | NC_000018.9 | Chr18 | 14,550,245 | 14,550,616 | 14,567,422 | 14,567,792 | ||
essv6472667 | Submitted genomic | NC_000018.9:g.(145 50245_14550616)_(1 4567422_14567792)d el | GRCh37 (hg19) | NC_000018.9 | Chr18 | 14,550,245 | 14,550,616 | 14,567,422 | 14,567,792 | ||
essv6516596 | Submitted genomic | NC_000018.9:g.(145 50245_14550616)_(1 4567422_14567792)d el | GRCh37 (hg19) | NC_000018.9 | Chr18 | 14,550,245 | 14,550,616 | 14,567,422 | 14,567,792 | ||
essv6567755 | Submitted genomic | NC_000018.9:g.(145 50245_14550616)_(1 4567422_14567792)d el | GRCh37 (hg19) | NC_000018.9 | Chr18 | 14,550,245 | 14,550,616 | 14,567,422 | 14,567,792 |
Validation Information
Variant Call ID | Experiment ID | Sample ID | Method | Analysis | Result |
---|---|---|---|---|---|
essv6567755 | 7 | SAMN00000492 | SNP array | Probe signal intensity | Pass |
essv5922781 | 7 | SAMN00000506 | SNP array | Probe signal intensity | Pass |
essv5726397 | 7 | SAMN00000510 | SNP array | Probe signal intensity | Pass |
essv6472667 | 7 | SAMN00000512 | SNP array | Probe signal intensity | Pass |
essv6126772 | 7 | SAMN00000520 | SNP array | Probe signal intensity | Pass |
essv5842778 | 7 | SAMN00000526 | SNP array | Probe signal intensity | Pass |
essv5783151 | 7 | SAMN00000527 | SNP array | Probe signal intensity | Pass |
essv6441302 | 7 | SAMN00000531 | SNP array | Probe signal intensity | Pass |
essv5671271 | 7 | SAMN00000540 | SNP array | Probe signal intensity | Pass |
essv5467490 | 7 | SAMN00000541 | SNP array | Probe signal intensity | Pass |
essv6200133 | 7 | SAMN00001029 | SNP array | Probe signal intensity | Pass |
essv5593536 | 7 | SAMN00001031 | SNP array | Probe signal intensity | Pass |
essv5544185 | 7 | SAMN00001032 | SNP array | Probe signal intensity | Pass |
essv6308005 | 7 | SAMN00001034 | SNP array | Probe signal intensity | Pass |
essv5822230 | 7 | SAMN00001037 | SNP array | Probe signal intensity | Pass |
essv6022893 | 7 | SAMN00001635 | SNP array | Probe signal intensity | Pass |
essv5765594 | 7 | SAMN00001648 | SNP array | Probe signal intensity | Pass |
essv6516596 | 7 | SAMN00001649 | SNP array | Probe signal intensity | Pass |
essv6228866 | 7 | SAMN00001657 | SNP array | Probe signal intensity | Pass |
essv6267184 | 7 | SAMN00001662 | SNP array | Probe signal intensity | Pass |