A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6981995



Internal ID12627560
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:10777433..10949233hg38UCSC Ensembl
Innerchr7:10817060..10988860hg19UCSC Ensembl
Innerchr7:10783585..10955385hg18UCSC Ensembl
Innerchr7:10590300..10762100hg17UCSC Ensembl
Cytoband7p21.3
Allele length
AssemblyAllele length
hg38171801
hg19171801
hg18171801
hg17171801
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 Sty2 SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6981995
Frequency
Sample Size771
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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