A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6987100



Internal ID12627559
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:10777460..10990121hg38UCSC Ensembl
Innerchr7:10817087..11029748hg19UCSC Ensembl
Innerchr7:10783612..10996273hg18UCSC Ensembl
Innerchr7:10590327..10802988hg17UCSC Ensembl
Cytoband7p21.3
Allele length
AssemblyAllele length
hg38212662
hg19212662
hg18212662
hg17212662
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2752140
Supporting Variants
SamplesBEC_510
Known GenesNDUFA4, PHF14
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Nsp SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6987100
Frequency
Sample Size771
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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