A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6986172



Internal ID12973729
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:65083311..65347811hg38UCSC Ensembl
Innerchr8:65995546..66260046hg19UCSC Ensembl
Innerchr8:66158100..66422600hg18UCSC Ensembl
Innerchr8:66158100..66422600hg17UCSC Ensembl
Cytoband8q12.3
Allele length
AssemblyAllele length
hg38264501
hg19264501
hg18264501
hg17264501
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2752261
Supporting Variants
SamplesBEC_442
Known GenesLINC00251
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Nsp SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6986172
Frequency
Sample Size771
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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