A curated catalogue of human genomic structural variation




Variant Details

Variant: esv34987



Internal ID12644337
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:29881842..29940184hg38UCSC Ensembl
Innerchr6:29849619..29907961hg19UCSC Ensembl
Innerchr6:29957598..30015940hg18UCSC Ensembl
Innerchr6:29957598..30015940hg17UCSC Ensembl
Cytoband6p21.33
Allele length
AssemblyAllele length
hg3858343
hg1958343
hg1858343
hg1758343
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv211e55
Supporting Variantsessv6980089, essv6980090
SamplesNA18951
Known GenesHCG4B, 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)esv34987
Frequency
Sample Size771
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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