A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6980162



Internal ID12981358
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:63031179..63139869hg38UCSC Ensembl
Innerchr6:63741084..63849774hg19UCSC Ensembl
Innerchr6:63799043..63907733hg18UCSC Ensembl
Innerchr6:63799043..63907733hg17UCSC Ensembl
Cytoband6q12
Allele length
AssemblyAllele length
hg38108691
hg19108691
hg18108691
hg17108691
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv34515
Supporting Variants
SamplesNA18965
Known Genes
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Sty2 SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6980162
Frequency
Sample Size771
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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