A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6985177



Internal ID12982889
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:2492267..2692011hg38UCSC Ensembl
Innerchr8:2349383..2549513hg19UCSC Ensembl
Innerchr8:2336790..2536920hg18UCSC Ensembl
Innerchr8:2336790..2536920hg17UCSC Ensembl
Cytoband8p23.2
Allele length
AssemblyAllele length
hg38199745
hg19200131
hg18200131
hg17200131
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2752247
Supporting Variants
SamplesSPC_113
Known Genes
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Sty2 SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6985177
Frequency
Sample Size771
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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