A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv213e55



Internal ID20126692
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:31385103..31530944hg38UCSC Ensembl
chr6:31352880..31498721hg19UCSC Ensembl
chr6:31460859..31606700hg18UCSC Ensembl
chr6:31460859..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 Variants
Supporting Variantsesv2752115, esv2752119, esv2752118
SamplesBEC_627, BEC_516, SPC_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
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)dgv213e55
Frequency
Sample Size771
Observed Gain14
Observed Loss0
Observed Complex0
Frequencyn/a


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