A curated catalogue of human genomic structural variation




Variant Details

Variant: esv34603



Internal ID12643953
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:29881842..29948216hg38UCSC Ensembl
Innerchr6:29849619..29915993hg19UCSC Ensembl
Innerchr6:29957598..30023972hg18UCSC Ensembl
Innerchr6:29957598..30023972hg17UCSC Ensembl
Cytoband6p21.33
Allele length
AssemblyAllele length
hg3866375
hg1966375
hg1866375
hg1766375
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv211e55
Supporting Variantsessv6988068, essv6978899
SamplesNA12760
Known GenesHCG4B, HLA-A, HLA-H
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)esv34603
Frequency
Sample Size771
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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