A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6985544



Internal ID12973165
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:101289049..101473876hg38UCSC Ensembl
Innerchr7:100932330..101117157hg19UCSC Ensembl
Innerchr7:100719050..100903877hg18UCSC Ensembl
Innerchr7:100525765..100710592hg17UCSC Ensembl
Cytoband7q22.1
Allele length
AssemblyAllele length
hg38184828
hg19184828
hg18184828
hg17184828
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)essv6985544
Frequency
Sample Size771
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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