A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3591408



Internal ID6631692
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:79524343..79533991hg38UCSC Ensembl
Innerchr2:79524396..79533939hg38UCSC Ensembl
Outerchr2:79524291..79534044hg38UCSC Ensembl
chr2:79751469..79761117hg19UCSC Ensembl
Innerchr2:79751522..79761065hg19UCSC Ensembl
Outerchr2:79751417..79761170hg19UCSC Ensembl
Cytoband2p12
Allele length
AssemblyAllele length
hg389649
hg199649
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv10557293, essv10557291, essv10557290, essv10557294, essv10557289, essv10557292
SamplesNA19720, HG01121, HG01344, HG01941, HG01948, HG01951
Known GenesCTNNA2
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3591408
Frequency
Sample Size2504
Observed Gain0
Observed Loss6
Observed Complex0
Frequencyn/a


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