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dbVar

Database of genomic structural variation

esv3872329

Organism: Homo sapiens

Study:estd219 (1000 Genomes Consortium Phase 3 Integrated SV)
Variant Type:copy number variation
Method Type:Sequencing
Submitted on:GRCh37

Variant Calls:3
Validation:Not tested
Clinical Assertions: No
Region Size:33,218

Publication(s):1000 Genomes Consortium Phase 3 Integrated SV

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: 276 SVs from 46 studies. See in: genome view

Remapped(Score: Perfect):27,209,441-27,244,658

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
esv3872329	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000014.9	Chr14	27,210,441 (-1000, +500)	27,243,658 (-500, +1000)
esv3872329	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000014.8	Chr14	27,679,647 (-1000, +500)	27,712,864 (-500, +1000)

Variant Call Information

Variant Call ID	Type	Sample ID	Method	Analysis	Zygosity	Other Calls in this Sample and Study
essv23407906	deletion	HG00116	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	3,545
essv23407907	deletion	HG00361	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	3,647
essv23407908	deletion	NA20346	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	3,389

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
essv23407906	Remapped	Perfect	NC_000014.9:g.(272 09441_27210941)_(2 7243158_27244658)d el	GRCh38.p12	First Pass	NC_000014.9	Chr14	27,210,441 (-1000, +500)	27,243,658 (-500, +1000)
essv23407907	Remapped	Perfect	NC_000014.9:g.(272 09441_27210941)_(2 7243158_27244658)d el	GRCh38.p12	First Pass	NC_000014.9	Chr14	27,210,441 (-1000, +500)	27,243,658 (-500, +1000)
essv23407908	Remapped	Perfect	NC_000014.9:g.(272 09441_27210941)_(2 7243158_27244658)d el	GRCh38.p12	First Pass	NC_000014.9	Chr14	27,210,441 (-1000, +500)	27,243,658 (-500, +1000)
essv23407906	Submitted genomic		NC_000014.8:g.(276 78647_27680147)_(2 7712364_27713864)d el	GRCh37 (hg19)		NC_000014.8	Chr14	27,679,647 (-1000, +500)	27,712,864 (-500, +1000)
essv23407907	Submitted genomic		NC_000014.8:g.(276 78647_27680147)_(2 7712364_27713864)d el	GRCh37 (hg19)		NC_000014.8	Chr14	27,679,647 (-1000, +500)	27,712,864 (-500, +1000)
essv23407908	Submitted genomic		NC_000014.8:g.(276 78647_27680147)_(2 7712364_27713864)d el	GRCh37 (hg19)		NC_000014.8	Chr14	27,679,647 (-1000, +500)	27,712,864 (-500, +1000)

No validation data were submitted for this variant

No clinical assertion data were submitted for this variant

Genotype and/or allele frequency data can be found on dbVar's FTP site.

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