A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3594675



Internal ID6981995
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:233373667..233376745hg38UCSC Ensembl
Innerchr2:233373667..233376745hg38UCSC Ensembl
Outerchr2:233373482..233376951hg38UCSC Ensembl
chr2:234282313..234285391hg19UCSC Ensembl
Innerchr2:234282313..234285391hg19UCSC Ensembl
Outerchr2:234282128..234285597hg19UCSC Ensembl
Cytoband2q37.1
Allele length
AssemblyAllele length
hg383079
hg193079
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv10879474
SamplesNA18536
Known GenesDGKD
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3594675
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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