A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2751971



Internal ID12638837
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:100623649..100749656hg38UCSC Ensembl
Innerchr3:100342493..100468500hg19UCSC Ensembl
Innerchr3:101825183..101951190hg18UCSC Ensembl
Innerchr3:101825183..101951190hg17UCSC Ensembl
Cytoband3q12.2
Allele length
AssemblyAllele length
hg38126008
hg19126008
hg18126008
hg17126008
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv183e55
Supporting Variantsessv6984335, essv6984336, essv6984337
SamplesBEC_691
Known GenesABI3BP, GPR128, TFG
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)esv2751971
Frequency
Sample Size771
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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