A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6988488



Internal ID12627693
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:31445144..31530744hg38UCSC Ensembl
Innerchr6:31412921..31498521hg19UCSC Ensembl
Innerchr6:31520900..31606500hg18UCSC Ensembl
Innerchr6:31520900..31606500hg17UCSC Ensembl
Cytoband6p21.33
Allele length
AssemblyAllele length
hg3885601
hg1985601
hg1885601
hg1785601
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2752119
Supporting Variants
SamplesBEC_516
Known GenesATP6V1G2-DDX39B, DDX39B, HCG26, HCP5, MCCD1, MICB
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Sty2 SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6988488
Frequency
Sample Size771
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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