A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2752077



Internal ID12985629
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:699075..823705hg38UCSC Ensembl
Innerchr5:699190..823820hg19UCSC Ensembl
Innerchr5:752190..876820hg18UCSC Ensembl
Innerchr5:752190..876820hg17UCSC Ensembl
Cytoband5p15.33
Allele length
AssemblyAllele length
hg38124631
hg19124631
hg18124631
hg17124631
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv195e55
Supporting Variantsessv6986121, essv6982262
SamplesBEC_408
Known GenesZDHHC11
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)esv2752077
Frequency
Sample Size771
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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