A curated catalogue of human genomic structural variation




Variant Details

Variant: esv34926



Internal ID12990962
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:31838572..31910099hg38UCSC Ensembl
Innerchr12:31991506..32063033hg19UCSC Ensembl
Innerchr12:31882773..31954300hg18UCSC Ensembl
Innerchr12:31882773..31954300hg17UCSC Ensembl
Cytoband12p11.21
Allele length
AssemblyAllele length
hg3871528
hg1971528
hg1871528
hg1771528
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv65e55
Supporting Variantsessv6978931, essv6978932, essv6990304
SamplesNA12763
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)esv34926
Frequency
Sample Size771
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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