A curated catalogue of human genomic structural variation




Variant Details

Variant: esv35050



Internal ID12644400
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:172656276..172752261hg38UCSC Ensembl
Innerchr5:172083279..172179264hg19UCSC Ensembl
Innerchr5:172015884..172111869hg18UCSC Ensembl
Innerchr5:172015884..172111869hg17UCSC Ensembl
Cytoband5q35.1
Allele length
AssemblyAllele length
hg3895986
hg1995986
hg1895986
hg1795986
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv208e55
Supporting Variantsessv6980853, essv6980851, essv6980852
SamplesNA19137
Known GenesNEURL1B
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)esv35050
Frequency
Sample Size771
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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