A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6985803



Internal ID12637372
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:31385144..31530944hg38UCSC Ensembl
Innerchr6:31352921..31498721hg19UCSC Ensembl
Innerchr6:31460900..31606700hg18UCSC Ensembl
Innerchr6:31460900..31606700hg17UCSC Ensembl
Cytoband6p21.33
Allele length
AssemblyAllele length
hg38145801
hg19145801
hg18145801
hg17145801
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2752115
Supporting Variants
SamplesSPC_54
Known GenesATP6V1G2-DDX39B, DDX39B, HCG26, HCP5, MCCD1, MICA, MICB
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Nsp SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6985803
Frequency
Sample Size771
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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