A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv214e55



Internal ID20126693
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:31385552..31489801hg38UCSC Ensembl
chr6:31353329..31457578hg19UCSC Ensembl
chr6:31461308..31565557hg18UCSC Ensembl
chr6:31461308..31565557hg17UCSC Ensembl
Cytoband6p21.33
Allele length
AssemblyAllele length
hg38104250
hg19104250
hg18104250
hg17104250
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv2752117, esv2752116, esv2752122, esv2752120
SamplesBEC_445, SPC_100, BEC_814, BEC_691
Known GenesHCG26, HCP5, MICA
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)dgv214e55
Frequency
Sample Size771
Observed Gain15
Observed Loss0
Observed Complex0
Frequencyn/a


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