A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2752115



Internal ID12638981
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:31385103..31530944hg38UCSC Ensembl
Innerchr6:31352880..31498721hg19UCSC Ensembl
Innerchr6:31460859..31606700hg18UCSC Ensembl
Innerchr6:31460859..31606700hg17UCSC Ensembl
Cytoband6p21.33
Allele length
AssemblyAllele length
hg38145842
hg19145842
hg18145842
hg17145842
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv213e55
Supporting Variantsessv6987267, essv6987266, essv6985803, essv6985805, essv6985804
SamplesSPC_54
Known GenesATP6V1G2-DDX39B, DDX39B, HCG26, HCP5, MCCD1, MICA, MICB
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Nsp SNP Array
Affymetrix Mapping 250K Sty2 SNP Array
CommentsSample level SV from stringent call set
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)esv2752115
Frequency
Sample Size771
Observed Gain5
Observed Loss0
Observed Complex0
Frequencyn/a


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