A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6980430



Internal ID12635746
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:6342424..6474237hg38UCSC Ensembl
Innerchr12:6451590..6583403hg19UCSC Ensembl
Innerchr12:6321851..6453664hg18UCSC Ensembl
Innerchr12:6321851..6453664hg17UCSC Ensembl
Cytoband12p13.31
Allele length
AssemblyAllele length
hg38131814
hg19131814
hg18131814
hg17131814
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv34325
Supporting Variants
SamplesNA19173
Known GenesCD27, CD27-AS1, LTBR, SCNN1A, TAPBPL, VAMP1
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Nsp SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6980430
Frequency
Sample Size771
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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