A curated catalogue of human genomic structural variation




Variant Details

Variant: esv34779



Internal ID12644129
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr21:39512944..39605546hg38UCSC Ensembl
Innerchr21:40884871..40977473hg19UCSC Ensembl
Innerchr21:39806741..39899343hg18UCSC Ensembl
Innerchr21:39806741..39899343hg17UCSC Ensembl
Cytoband21q22.2
Allele length
AssemblyAllele length
hg3892603
hg1992603
hg1892603
hg1792603
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6978726, essv6978728, essv6978725, essv6990276, essv6978727
SamplesNA12156
Known GenesC21orf88, SH3BGR
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)esv34779
Frequency
Sample Size771
Observed Gain5
Observed Loss0
Observed Complex0
Frequencyn/a


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