A curated catalogue of human genomic structural variation




Variant Details

Variant: esv34834



Internal ID12644184
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:143999679..144110688hg38UCSC Ensembl
Innerchr4:144920832..145031841hg19UCSC Ensembl
Innerchr4:145140282..145251291hg18UCSC Ensembl
Innerchr4:145278437..145389446hg17UCSC Ensembl
Cytoband4q31.21
Allele length
AssemblyAllele length
hg38111010
hg19111010
hg18111010
hg17111010
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6979424, essv6986863
SamplesNA18552
Known GenesGYPA, GYPB
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Nsp SNP Array
CommentsSample level SV from stringent call set
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)esv34834
Frequency
Sample Size771
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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