A curated catalogue of human genomic structural variation




Variant Details

Variant: esv34272



Internal ID12990311
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:215453514..215545771hg38UCSC Ensembl
Innerchr2:216318237..216410494hg19UCSC Ensembl
Innerchr2:216026482..216118739hg18UCSC Ensembl
Innerchr2:216143743..216236000hg17UCSC Ensembl
Cytoband2q35
Allele length
AssemblyAllele length
hg3892258
hg1992258
hg1892258
hg1792258
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6988111, essv6979148
SamplesNA18500
Known Genes
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Nsp SNP Array
CommentsSample level SV from stringent call set
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)esv34272
Frequency
Sample Size771
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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