A curated catalogue of human genomic structural variation




Variant Details

Variant: esv34838



Internal ID12990874
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:49502688..49634948hg38UCSC Ensembl
Innerchr8:50415247..50547507hg19UCSC Ensembl
Innerchr8:50577800..50710060hg18UCSC Ensembl
Innerchr8:50577800..50710060hg17UCSC Ensembl
Cytoband8q11.21
Allele length
AssemblyAllele length
hg38132261
hg19132261
hg18132261
hg17132261
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv251e55
Supporting Variantsessv6980227, essv6987043, essv6980229, essv6990458, essv6980228
SamplesNA18970
Known Genes
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)esv34838
Frequency
Sample Size771
Observed Gain5
Observed Loss0
Observed Complex0
Frequencyn/a


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