A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6982166



Internal ID12973286
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 StatusS
Merged Variantsesv2752136
Supporting Variants
SamplesBEC_397
Known GenesCOL26A1, RABL5
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Nsp SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6982166
Frequency
Sample Size771
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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