A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2752136



Internal ID12985688
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:101289049..101499978hg38UCSC Ensembl
Innerchr7:100932330..101143259hg19UCSC Ensembl
Innerchr7:100719050..100929979hg18UCSC Ensembl
Innerchr7:100525765..100736694hg17UCSC Ensembl
Cytoband7q22.1
Allele length
AssemblyAllele length
hg38210930
hg19210930
hg18210930
hg17210930
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv236e55
Supporting Variantsessv6988499, essv6982167, essv6982166
SamplesBEC_397
Known GenesCOL26A1, RABL5
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)esv2752136
Frequency
Sample Size771
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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