A curated catalogue of human genomic structural variation




Variant Details

Variant: essv10522186



Internal ID524002
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:63172301..63172973hg38UCSC Ensembl
Innerchr2:63172351..63172923hg38UCSC Ensembl
Outerchr2:63172251..63173023hg38UCSC Ensembl
chr2:63399436..63400108hg19UCSC Ensembl
Innerchr2:63399486..63400058hg19UCSC Ensembl
Outerchr2:63399386..63400158hg19UCSC Ensembl
Cytoband2p15
Allele length
AssemblyAllele length
hg38673
hg19673
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3591051
Supporting Variants
SamplesHG02035
Known GenesWDPCP
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv10522186
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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