A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2752082



Internal ID12638948
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:81869885..82112925hg38UCSC Ensembl
Innerchr5:81165704..81408744hg19UCSC Ensembl
Innerchr5:81201460..81444500hg18UCSC Ensembl
Innerchr5:81201460..81444500hg17UCSC Ensembl
Cytoband5q14.1
Allele length
AssemblyAllele length
hg38243041
hg19243041
hg18243041
hg17243041
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6982178, essv6982177, essv6988501
SamplesBEC_40
Known GenesATG10
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)esv2752082
Frequency
Sample Size771
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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