A curated catalogue of human genomic structural variation




Variant Details

Variant: esv34554



Internal ID12643905
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:131284620..131807802hg38UCSC Ensembl
Innerchr12:131769165..132292347hg19UCSC Ensembl
Innerchr12:130335118..130858300hg18UCSC Ensembl
Innerchr12:130294045..130958577hg17UCSC Ensembl
Cytoband12q24.33
Allele length
AssemblyAllele length
hg38523183
hg19523183
hg18523183
hg17664533
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6979361, essv6979364, essv6986842, essv6979363, essv6979365, essv6979362
SamplesNA18537
Known GenesLOC338797, SFSWAP
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)esv34554
Frequency
Sample Size771
Observed Gain6
Observed Loss0
Observed Complex0
Frequencyn/a


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