A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6978609



Internal ID12632123
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:76640970..76869995hg38UCSC Ensembl
Innerchr7:76270287..76499312hg19UCSC Ensembl
Innerchr7:76108223..76337248hg18UCSC Ensembl
Innerchr7:75914938..76143963hg17UCSC Ensembl
Cytoband7q11.23
Allele length
AssemblyAllele length
hg38229026
hg19229026
hg18229026
hg17229026
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv35079
Supporting Variants
SamplesNA12005
Known Genes
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Nsp SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6978609
Frequency
Sample Size771
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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