A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6981996



Internal ID12627564
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:10785033..10950733hg38UCSC Ensembl
Innerchr7:10824660..10990360hg19UCSC Ensembl
Innerchr7:10791185..10956885hg18UCSC Ensembl
Innerchr7:10597900..10763600hg17UCSC Ensembl
Cytoband7p21.3
Allele length
AssemblyAllele length
hg38165701
hg19165701
hg18165701
hg17165701
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2752140
Supporting Variants
SamplesBEC_510
Known GenesNDUFA4
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Nsp SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6981996
Frequency
Sample Size771
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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