A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6981997



Internal ID12627555
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:10794861..10950685hg38UCSC Ensembl
Innerchr7:10834488..10990312hg19UCSC Ensembl
Innerchr7:10801013..10956837hg18UCSC Ensembl
Innerchr7:10607728..10763552hg17UCSC Ensembl
Cytoband7p21.3
Allele length
AssemblyAllele length
hg38155825
hg19155825
hg18155825
hg17155825
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)essv6981997
Frequency
Sample Size771
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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