A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3592241



Internal ID6979568
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:122782865..122808374hg38UCSC Ensembl
Innerchr2:122782865..122808374hg38UCSC Ensembl
Outerchr2:122782365..122808874hg38UCSC Ensembl
chr2:123540441..123565950hg19UCSC Ensembl
Innerchr2:123540441..123565950hg19UCSC Ensembl
Outerchr2:123539941..123566450hg19UCSC Ensembl
Cytoband2q14.3
Allele length
AssemblyAllele length
hg3825510
hg1925510
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv10652425
SamplesNA19438
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3592241
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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