A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2751042



Internal ID12637908
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:131776139..132005401hg38UCSC Ensembl
Innerchr12:132260684..132489946hg19UCSC Ensembl
Innerchr12:130826637..131055899hg18UCSC Ensembl
Innerchr12:130926914..131156176hg17UCSC Ensembl
Cytoband12q24.33
Allele length
AssemblyAllele length
hg38229263
hg19229263
hg18229263
hg17229263
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6988871, essv6984953, essv6984951, essv6984952, essv6987123
SamplesSPC_20
Known GenesEP400, MMP17, PUS1, SFSWAP, ULK1
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)esv2751042
Frequency
Sample Size771
Observed Gain5
Observed Loss0
Observed Complex0
Frequencyn/a


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