A curated catalogue of human genomic structural variation




Variant Details

Variant: esv34797



Internal ID12990833
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:113433086..113440730hg38UCSC Ensembl
Innerchr4:114354242..114361886hg19UCSC Ensembl
Innerchr4:114573691..114581335hg18UCSC Ensembl
Innerchr4:114711846..114719490hg17UCSC Ensembl
Cytoband4q26
Allele length
AssemblyAllele length
hg387645
hg197645
hg187645
hg177645
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6978604, essv6978603
SamplesNA12005
Known Genes
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Nsp SNP Array
Affymetrix Mapping 250K Sty2 SNP Array
CommentsSample level SV from stringent call set
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)esv34797
Frequency
Sample Size771
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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