A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3593890



Internal ID6981212
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:196469476..196476345hg38UCSC Ensembl
Innerchr2:196469626..196476195hg38UCSC Ensembl
Outerchr2:196469326..196476495hg38UCSC Ensembl
chr2:197334200..197341069hg19UCSC Ensembl
Innerchr2:197334350..197340919hg19UCSC Ensembl
Outerchr2:197334050..197341219hg19UCSC Ensembl
Cytoband2q32.3
Allele length
AssemblyAllele length
hg386870
hg196870
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv10815395, essv10815393, essv10815394
SamplesHG02153, HG02188, HG01794
Known GenesHECW2
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3593890
Frequency
Sample Size2504
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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