A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2751965



Internal ID12638831
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:100580466..100743683hg38UCSC Ensembl
Innerchr3:100299310..100462527hg19UCSC Ensembl
Innerchr3:101782000..101945217hg18UCSC Ensembl
Innerchr3:101782000..101945217hg17UCSC Ensembl
Cytoband3q12.2
Allele length
AssemblyAllele length
hg38163218
hg19163218
hg18163218
hg17163218
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv182e55
Supporting Variantsessv6988495, essv6982146, essv6982144, essv6982145
SamplesBEC_396
Known GenesGPR128, 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)esv2751965
Frequency
Sample Size771
Observed Gain4
Observed Loss0
Observed Complex0
Frequencyn/a


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