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

dbVar

Database of genomic structural variation

esv3872936

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:1
Validation:Not tested
Clinical Assertions: No
Region Size:60,131

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: 209 SVs from 43 studies. See in: genome view

Remapped(Score: Perfect):48,767,231-48,828,361

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
esv3872936	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000014.9	Chr14	48,767,731 (-500, +0)	48,827,861 (-0, +500)
esv3872936	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000014.8	Chr14	49,236,934 (-500, +0)	49,297,064 (-0, +500)

Variant Call Information

Variant Call ID	Type	Sample ID	Method	Analysis	Zygosity	Other Calls in this Sample and Study
essv23475403	deletion	HG02278	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	3,119

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
essv23475403	Remapped	Perfect	NC_000014.9:g.(487 67231_48767731)_(4 8827861_48828361)d el	GRCh38.p12	First Pass	NC_000014.9	Chr14	48,767,731 (-500, +0)	48,827,861 (-0, +500)
essv23475403	Submitted genomic		NC_000014.8:g.(492 36434_49236934)_(4 9297064_49297564)d el	GRCh37 (hg19)		NC_000014.8	Chr14	49,236,934 (-500, +0)	49,297,064 (-0, +500)

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.

You are here: NCBI