A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6981321



Internal ID12973157
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:101289284..101474284hg38UCSC Ensembl
Innerchr7:100932565..101117565hg19UCSC Ensembl
Innerchr7:100719285..100904285hg18UCSC Ensembl
Innerchr7:100526000..100711000hg17UCSC Ensembl
Cytoband7q22.1
Allele length
AssemblyAllele length
hg38185001
hg19185001
hg18185001
hg17185001
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2752135
Supporting Variants
SamplesBEC_385
Known GenesCOL26A1, RABL5
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Nsp SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6981321
Frequency
Sample Size771
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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