A curated catalogue of human genomic structural variation




Variant Details

Variant: esv34684



Internal ID12644034
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:31391844..31506911hg38UCSC Ensembl
Innerchr6:31359621..31474688hg19UCSC Ensembl
Innerchr6:31467600..31582667hg18UCSC Ensembl
Innerchr6:31467600..31582667hg17UCSC Ensembl
Cytoband6p21.33
Allele length
AssemblyAllele length
hg38115068
hg19115068
hg18115068
hg17115068
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv215e55
Supporting Variantsessv6979505, essv6989098, essv6988187, essv6988188
SamplesNA18563
Known GenesHCG26, HCP5, MICA, MICB
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)esv34684
Frequency
Sample Size771
Observed Gain0
Observed Loss4
Observed Complex0
Frequencyn/a


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