esv2665944
- Organism: Homo sapiens
- Study:estd199 (1000 Genomes Consortium Phase 1)
- Variant Type:copy number variation
- Method Type:Sequencing
- Submitted on:GRCh37 (hg19)
- Variant Calls:17
- Validation:Yes
- Clinical Assertions: No
- Region Size:12,148
- 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: 331 SVs from 53 studies. See in: genome view
Overlapping variant regions from other studies: 331 SVs from 53 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 |
---|---|---|---|---|---|---|---|---|---|---|---|
esv2665944 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000018.10 | Chr18 | 14,449,246 | 14,449,617 | 14,461,023 | 14,461,393 |
esv2665944 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000018.9 | Chr18 | 14,449,245 | 14,449,616 | 14,461,022 | 14,461,392 |
Variant Call Information
Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
---|---|---|---|---|---|
essv5403667 | deletion | SAMN00000420 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,470 |
essv5570445 | deletion | SAMN00000927 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,263 |
essv5661418 | deletion | SAMN00000931 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,215 |
essv5840311 | deletion | SAMN00001606 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,273 |
essv5880761 | deletion | SAMN00000425 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,480 |
essv5889496 | deletion | SAMN00001614 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,305 |
essv5930779 | deletion | SAMN00000424 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,563 |
essv5932815 | deletion | SAMN00000452 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,154 |
essv5945144 | deletion | SAMN00001621 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,225 |
essv6123618 | deletion | SAMN00000444 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,523 |
essv6187620 | deletion | SAMN00000448 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,188 |
essv6230121 | deletion | SAMN00001605 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,150 |
essv6286028 | deletion | SAMN00000434 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,579 |
essv6290802 | deletion | SAMN00000423 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,491 |
essv6329216 | deletion | SAMN00001595 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,210 |
essv6336213 | deletion | SAMN00000442 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,006 |
essv6456022 | deletion | SAMN00001616 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,254 |
Variant Call Placement Information
Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Outer Start | Inner Start | Inner Stop | Outer Stop |
---|---|---|---|---|---|---|---|---|---|---|---|
essv5403667 | Remapped | Perfect | NC_000018.10:g.(14 449246_14449617)_( 14461023_14461393) del | GRCh38.p12 | First Pass | NC_000018.10 | Chr18 | 14,449,246 | 14,449,617 | 14,461,023 | 14,461,393 |
essv5570445 | Remapped | Perfect | NC_000018.10:g.(14 449246_14449617)_( 14461023_14461393) del | GRCh38.p12 | First Pass | NC_000018.10 | Chr18 | 14,449,246 | 14,449,617 | 14,461,023 | 14,461,393 |
essv5661418 | Remapped | Perfect | NC_000018.10:g.(14 449246_14449617)_( 14461023_14461393) del | GRCh38.p12 | First Pass | NC_000018.10 | Chr18 | 14,449,246 | 14,449,617 | 14,461,023 | 14,461,393 |
essv5840311 | Remapped | Perfect | NC_000018.10:g.(14 449246_14449617)_( 14461023_14461393) del | GRCh38.p12 | First Pass | NC_000018.10 | Chr18 | 14,449,246 | 14,449,617 | 14,461,023 | 14,461,393 |
essv5880761 | Remapped | Perfect | NC_000018.10:g.(14 449246_14449617)_( 14461023_14461393) del | GRCh38.p12 | First Pass | NC_000018.10 | Chr18 | 14,449,246 | 14,449,617 | 14,461,023 | 14,461,393 |
essv5889496 | Remapped | Perfect | NC_000018.10:g.(14 449246_14449617)_( 14461023_14461393) del | GRCh38.p12 | First Pass | NC_000018.10 | Chr18 | 14,449,246 | 14,449,617 | 14,461,023 | 14,461,393 |
essv5930779 | Remapped | Perfect | NC_000018.10:g.(14 449246_14449617)_( 14461023_14461393) del | GRCh38.p12 | First Pass | NC_000018.10 | Chr18 | 14,449,246 | 14,449,617 | 14,461,023 | 14,461,393 |
essv5932815 | Remapped | Perfect | NC_000018.10:g.(14 449246_14449617)_( 14461023_14461393) del | GRCh38.p12 | First Pass | NC_000018.10 | Chr18 | 14,449,246 | 14,449,617 | 14,461,023 | 14,461,393 |
essv5945144 | Remapped | Perfect | NC_000018.10:g.(14 449246_14449617)_( 14461023_14461393) del | GRCh38.p12 | First Pass | NC_000018.10 | Chr18 | 14,449,246 | 14,449,617 | 14,461,023 | 14,461,393 |
essv6123618 | Remapped | Perfect | NC_000018.10:g.(14 449246_14449617)_( 14461023_14461393) del | GRCh38.p12 | First Pass | NC_000018.10 | Chr18 | 14,449,246 | 14,449,617 | 14,461,023 | 14,461,393 |
essv6187620 | Remapped | Perfect | NC_000018.10:g.(14 449246_14449617)_( 14461023_14461393) del | GRCh38.p12 | First Pass | NC_000018.10 | Chr18 | 14,449,246 | 14,449,617 | 14,461,023 | 14,461,393 |
essv6230121 | Remapped | Perfect | NC_000018.10:g.(14 449246_14449617)_( 14461023_14461393) del | GRCh38.p12 | First Pass | NC_000018.10 | Chr18 | 14,449,246 | 14,449,617 | 14,461,023 | 14,461,393 |
essv6286028 | Remapped | Perfect | NC_000018.10:g.(14 449246_14449617)_( 14461023_14461393) del | GRCh38.p12 | First Pass | NC_000018.10 | Chr18 | 14,449,246 | 14,449,617 | 14,461,023 | 14,461,393 |
essv6290802 | Remapped | Perfect | NC_000018.10:g.(14 449246_14449617)_( 14461023_14461393) del | GRCh38.p12 | First Pass | NC_000018.10 | Chr18 | 14,449,246 | 14,449,617 | 14,461,023 | 14,461,393 |
essv6329216 | Remapped | Perfect | NC_000018.10:g.(14 449246_14449617)_( 14461023_14461393) del | GRCh38.p12 | First Pass | NC_000018.10 | Chr18 | 14,449,246 | 14,449,617 | 14,461,023 | 14,461,393 |
essv6336213 | Remapped | Perfect | NC_000018.10:g.(14 449246_14449617)_( 14461023_14461393) del | GRCh38.p12 | First Pass | NC_000018.10 | Chr18 | 14,449,246 | 14,449,617 | 14,461,023 | 14,461,393 |
essv6456022 | Remapped | Perfect | NC_000018.10:g.(14 449246_14449617)_( 14461023_14461393) del | GRCh38.p12 | First Pass | NC_000018.10 | Chr18 | 14,449,246 | 14,449,617 | 14,461,023 | 14,461,393 |
essv5403667 | Submitted genomic | NC_000018.9:g.(144 49245_14449616)_(1 4461022_14461392)d el | GRCh37 (hg19) | NC_000018.9 | Chr18 | 14,449,245 | 14,449,616 | 14,461,022 | 14,461,392 | ||
essv5570445 | Submitted genomic | NC_000018.9:g.(144 49245_14449616)_(1 4461022_14461392)d el | GRCh37 (hg19) | NC_000018.9 | Chr18 | 14,449,245 | 14,449,616 | 14,461,022 | 14,461,392 | ||
essv5661418 | Submitted genomic | NC_000018.9:g.(144 49245_14449616)_(1 4461022_14461392)d el | GRCh37 (hg19) | NC_000018.9 | Chr18 | 14,449,245 | 14,449,616 | 14,461,022 | 14,461,392 | ||
essv5840311 | Submitted genomic | NC_000018.9:g.(144 49245_14449616)_(1 4461022_14461392)d el | GRCh37 (hg19) | NC_000018.9 | Chr18 | 14,449,245 | 14,449,616 | 14,461,022 | 14,461,392 | ||
essv5880761 | Submitted genomic | NC_000018.9:g.(144 49245_14449616)_(1 4461022_14461392)d el | GRCh37 (hg19) | NC_000018.9 | Chr18 | 14,449,245 | 14,449,616 | 14,461,022 | 14,461,392 | ||
essv5889496 | Submitted genomic | NC_000018.9:g.(144 49245_14449616)_(1 4461022_14461392)d el | GRCh37 (hg19) | NC_000018.9 | Chr18 | 14,449,245 | 14,449,616 | 14,461,022 | 14,461,392 | ||
essv5930779 | Submitted genomic | NC_000018.9:g.(144 49245_14449616)_(1 4461022_14461392)d el | GRCh37 (hg19) | NC_000018.9 | Chr18 | 14,449,245 | 14,449,616 | 14,461,022 | 14,461,392 | ||
essv5932815 | Submitted genomic | NC_000018.9:g.(144 49245_14449616)_(1 4461022_14461392)d el | GRCh37 (hg19) | NC_000018.9 | Chr18 | 14,449,245 | 14,449,616 | 14,461,022 | 14,461,392 | ||
essv5945144 | Submitted genomic | NC_000018.9:g.(144 49245_14449616)_(1 4461022_14461392)d el | GRCh37 (hg19) | NC_000018.9 | Chr18 | 14,449,245 | 14,449,616 | 14,461,022 | 14,461,392 | ||
essv6123618 | Submitted genomic | NC_000018.9:g.(144 49245_14449616)_(1 4461022_14461392)d el | GRCh37 (hg19) | NC_000018.9 | Chr18 | 14,449,245 | 14,449,616 | 14,461,022 | 14,461,392 | ||
essv6187620 | Submitted genomic | NC_000018.9:g.(144 49245_14449616)_(1 4461022_14461392)d el | GRCh37 (hg19) | NC_000018.9 | Chr18 | 14,449,245 | 14,449,616 | 14,461,022 | 14,461,392 | ||
essv6230121 | Submitted genomic | NC_000018.9:g.(144 49245_14449616)_(1 4461022_14461392)d el | GRCh37 (hg19) | NC_000018.9 | Chr18 | 14,449,245 | 14,449,616 | 14,461,022 | 14,461,392 | ||
essv6286028 | Submitted genomic | NC_000018.9:g.(144 49245_14449616)_(1 4461022_14461392)d el | GRCh37 (hg19) | NC_000018.9 | Chr18 | 14,449,245 | 14,449,616 | 14,461,022 | 14,461,392 | ||
essv6290802 | Submitted genomic | NC_000018.9:g.(144 49245_14449616)_(1 4461022_14461392)d el | GRCh37 (hg19) | NC_000018.9 | Chr18 | 14,449,245 | 14,449,616 | 14,461,022 | 14,461,392 | ||
essv6329216 | Submitted genomic | NC_000018.9:g.(144 49245_14449616)_(1 4461022_14461392)d el | GRCh37 (hg19) | NC_000018.9 | Chr18 | 14,449,245 | 14,449,616 | 14,461,022 | 14,461,392 | ||
essv6336213 | Submitted genomic | NC_000018.9:g.(144 49245_14449616)_(1 4461022_14461392)d el | GRCh37 (hg19) | NC_000018.9 | Chr18 | 14,449,245 | 14,449,616 | 14,461,022 | 14,461,392 | ||
essv6456022 | Submitted genomic | NC_000018.9:g.(144 49245_14449616)_(1 4461022_14461392)d el | GRCh37 (hg19) | NC_000018.9 | Chr18 | 14,449,245 | 14,449,616 | 14,461,022 | 14,461,392 |
Validation Information
Variant Call ID | Experiment ID | Sample ID | Method | Analysis | Result |
---|---|---|---|---|---|
essv5403667 | 7 | SAMN00000420 | SNP array | Probe signal intensity | Pass |
essv6290802 | 7 | SAMN00000423 | SNP array | Probe signal intensity | Pass |
essv5930779 | 7 | SAMN00000424 | SNP array | Probe signal intensity | Pass |
essv5880761 | 7 | SAMN00000425 | SNP array | Probe signal intensity | Pass |
essv6286028 | 7 | SAMN00000434 | SNP array | Probe signal intensity | Pass |
essv6336213 | 7 | SAMN00000442 | SNP array | Probe signal intensity | Pass |
essv6123618 | 7 | SAMN00000444 | SNP array | Probe signal intensity | Pass |
essv6187620 | 7 | SAMN00000448 | SNP array | Probe signal intensity | Pass |
essv5932815 | 7 | SAMN00000452 | SNP array | Probe signal intensity | Pass |
essv5570445 | 7 | SAMN00000927 | SNP array | Probe signal intensity | Pass |
essv5661418 | 7 | SAMN00000931 | SNP array | Probe signal intensity | Pass |
essv6329216 | 7 | SAMN00001595 | SNP array | Probe signal intensity | Pass |
essv6230121 | 7 | SAMN00001605 | SNP array | Probe signal intensity | Pass |
essv5840311 | 7 | SAMN00001606 | SNP array | Probe signal intensity | Pass |
essv5889496 | 7 | SAMN00001614 | SNP array | Probe signal intensity | Pass |
essv6456022 | 7 | SAMN00001616 | SNP array | Probe signal intensity | Pass |
essv5945144 | 7 | SAMN00001621 | SNP array | Probe signal intensity | Pass |