Warning: The NCBI web site requires JavaScript to function. more...

dbVar

Database of genomic structural variation

esv2659514

Organism: Homo sapiens

Study:estd199 (1000 Genomes Consortium Phase 1)
Variant Type:copy number variation
Method Type:Sequencing
Submitted on:GRCh37 (hg19)

Variant Calls:9
Validation:Yes
Clinical Assertions: No
Region Size:1,992

Description:High quality site
Publication(s):1000 Genomes Project Consortium et al. 2012

Links to Other Resources

Overlapping Genes

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: 558 SVs from 60 studies. See in: genome view

Remapped(Score: Perfect):78,409,415-78,411,406

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
esv2659514	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000018.10	Chr18	78,409,415	78,411,406
esv2659514	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000018.9	Chr18	76,169,415	76,171,406

Variant Call Information

Variant Call ID	Type	Sample ID	Method	Analysis	Other Calls in this Sample and Study
essv5474104	deletion	SAMN00001141	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	1,524
essv5729191	deletion	SAMN00001643	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	1,323
essv5755255	deletion	SAMN00000575	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	989
essv5769298	deletion	SAMN00007735	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	1,353
essv5992959	deletion	SAMN00001680	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	838
essv6081865	deletion	SAMN00000474	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	1,357
essv6165392	deletion	SAMN00001632	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	1,311
essv6229955	deletion	SAMN00801027	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	1,224
essv6241429	deletion	SAMN00001674	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	1,625

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
essv5474104	Remapped	Perfect	NC_000018.10:g.784 09415_78411406delA	GRCh38.p12	First Pass	NC_000018.10	Chr18	78,409,415	78,411,406
essv5729191	Remapped	Perfect	NC_000018.10:g.784 09415_78411406delA	GRCh38.p12	First Pass	NC_000018.10	Chr18	78,409,415	78,411,406
essv5755255	Remapped	Perfect	NC_000018.10:g.784 09415_78411406delA	GRCh38.p12	First Pass	NC_000018.10	Chr18	78,409,415	78,411,406
essv5769298	Remapped	Perfect	NC_000018.10:g.784 09415_78411406delA	GRCh38.p12	First Pass	NC_000018.10	Chr18	78,409,415	78,411,406
essv5992959	Remapped	Perfect	NC_000018.10:g.784 09415_78411406delA	GRCh38.p12	First Pass	NC_000018.10	Chr18	78,409,415	78,411,406
essv6081865	Remapped	Perfect	NC_000018.10:g.784 09415_78411406delA	GRCh38.p12	First Pass	NC_000018.10	Chr18	78,409,415	78,411,406
essv6165392	Remapped	Perfect	NC_000018.10:g.784 09415_78411406delA	GRCh38.p12	First Pass	NC_000018.10	Chr18	78,409,415	78,411,406
essv6229955	Remapped	Perfect	NC_000018.10:g.784 09415_78411406delA	GRCh38.p12	First Pass	NC_000018.10	Chr18	78,409,415	78,411,406
essv6241429	Remapped	Perfect	NC_000018.10:g.784 09415_78411406delA	GRCh38.p12	First Pass	NC_000018.10	Chr18	78,409,415	78,411,406
essv5474104	Submitted genomic		NC_000018.9:g.7616 9415_76171406delA	GRCh37 (hg19)		NC_000018.9	Chr18	76,169,415	76,171,406
essv5729191	Submitted genomic		NC_000018.9:g.7616 9415_76171406delA	GRCh37 (hg19)		NC_000018.9	Chr18	76,169,415	76,171,406
essv5755255	Submitted genomic		NC_000018.9:g.7616 9415_76171406delA	GRCh37 (hg19)		NC_000018.9	Chr18	76,169,415	76,171,406
essv5769298	Submitted genomic		NC_000018.9:g.7616 9415_76171406delA	GRCh37 (hg19)		NC_000018.9	Chr18	76,169,415	76,171,406
essv5992959	Submitted genomic		NC_000018.9:g.7616 9415_76171406delA	GRCh37 (hg19)		NC_000018.9	Chr18	76,169,415	76,171,406
essv6081865	Submitted genomic		NC_000018.9:g.7616 9415_76171406delA	GRCh37 (hg19)		NC_000018.9	Chr18	76,169,415	76,171,406
essv6165392	Submitted genomic		NC_000018.9:g.7616 9415_76171406delA	GRCh37 (hg19)		NC_000018.9	Chr18	76,169,415	76,171,406
essv6229955	Submitted genomic		NC_000018.9:g.7616 9415_76171406delA	GRCh37 (hg19)		NC_000018.9	Chr18	76,169,415	76,171,406
essv6241429	Submitted genomic		NC_000018.9:g.7616 9415_76171406delA	GRCh37 (hg19)		NC_000018.9	Chr18	76,169,415	76,171,406

Validation Information

Variant Call ID	Experiment ID	Sample ID	Method	Analysis	Result
essv6081865	7	SAMN00000474	SNP array	Probe signal intensity	Pass
essv5755255	7	SAMN00000575	SNP array	Probe signal intensity	Pass
essv5474104	7	SAMN00001141	SNP array	Probe signal intensity	Pass
essv6165392	7	SAMN00001632	SNP array	Probe signal intensity	Pass
essv5729191	7	SAMN00001643	SNP array	Probe signal intensity	Pass
essv6241429	7	SAMN00001674	SNP array	Probe signal intensity	Pass
essv5992959	7	SAMN00001680	SNP array	Probe signal intensity	Pass
essv5769298	7	SAMN00007735	SNP array	Probe signal intensity	Pass
essv6229955	7	SAMN00801027	SNP array	Probe signal intensity	Pass

No clinical assertion data were submitted for this variant

No genotype data were submitted for this variant

You are here: NCBI