A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6978762



Internal ID12979078
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 StatusS
Merged Variantsesv34670
Supporting Variants
SamplesNA12236
Known GenesLINC00539, MIPEPP3
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Nsp SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6978762
Frequency
Sample Size771
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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