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dbVar

Database of genomic structural variation

esv3873221

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:2
Validation:Not tested
Clinical Assertions: No
Region Size:9,858

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: 122 SVs from 28 studies. See in: genome view

Remapped(Score: Perfect):61,932,848-61,942,705

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
esv3873221	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000014.9	Chr14	61,932,848	61,942,705
esv3873221	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000014.8	Chr14	62,399,566	62,409,423

Variant Call Information

Variant Call ID	Type	Sample ID	Method	Analysis	Zygosity	Other Calls in this Sample and Study
essv23515295	deletion	HG01766	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	3,435
essv23515296	deletion	NA20334	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	3,123

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
essv23515295	Remapped	Perfect	NC_000014.9:g.6193 2848_61942705del	GRCh38.p12	First Pass	NC_000014.9	Chr14	61,932,848	61,942,705
essv23515296	Remapped	Perfect	NC_000014.9:g.6193 2848_61942705del	GRCh38.p12	First Pass	NC_000014.9	Chr14	61,932,848	61,942,705
essv23515295	Submitted genomic		NC_000014.8:g.6239 9566_62409423del	GRCh37 (hg19)		NC_000014.8	Chr14	62,399,566	62,409,423
essv23515296	Submitted genomic		NC_000014.8:g.6239 9566_62409423del	GRCh37 (hg19)		NC_000014.8	Chr14	62,399,566	62,409,423

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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