A curated catalogue of human genomic structural variation




Variant Details

Variant: esv34325



Internal ID12643678
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:6342424..6513183hg38UCSC Ensembl
Innerchr12:6451590..6622349hg19UCSC Ensembl
Innerchr12:6321851..6492610hg18UCSC Ensembl
Innerchr12:6321851..6492610hg17UCSC Ensembl
Cytoband12p13.31
Allele length
AssemblyAllele length
hg38170760
hg19170760
hg18170760
hg17170760
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6980430, essv6980432, essv6980431
SamplesNA19173
Known GenesCD27, CD27-AS1, LTBR, MRPL51, NCAPD2, SCARNA10, SCNN1A, TAPBPL, VAMP1
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)esv34325
Frequency
Sample Size771
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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