A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3593690



Internal ID6981013
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:187365861..187375368hg38UCSC Ensembl
Innerchr2:187366361..187374868hg38UCSC Ensembl
Outerchr2:187364861..187376368hg38UCSC Ensembl
chr2:188230588..188240095hg19UCSC Ensembl
Innerchr2:188231088..188239595hg19UCSC Ensembl
Outerchr2:188229588..188241095hg19UCSC Ensembl
Cytoband2q32.1
Allele length
AssemblyAllele length
hg389508
hg199508
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv10791391, essv10791395, essv10791393, essv10791396, essv10791394, essv10791392
SamplesHG03757, HG01124, HG02793, NA21116, HG03611, HG02778
Known GenesCALCRL
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3593690
Frequency
Sample Size2504
Observed Gain0
Observed Loss6
Observed Complex0
Frequencyn/a


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