A curated catalogue of human genomic structural variation




Variant Details

Variant: esv34670



Internal ID12990706
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr13:21236080..21324029hg38UCSC Ensembl
Innerchr13:21810219..21898168hg19UCSC Ensembl
Innerchr13:20708219..20796168hg18UCSC Ensembl
Innerchr13:20708219..20796168hg17UCSC Ensembl
Cytoband13q12.11
Allele length
AssemblyAllele length
hg3887950
hg1987950
hg1887950
hg1787950
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6978762, essv6986698
SamplesNA12236
Known GenesLINC00539, MIPEPP3
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)esv34670
Frequency
Sample Size771
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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