A curated catalogue of human genomic structural variation




Variant Details

Variant: esv34991



Internal ID12644341
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:31391844..31489844hg38UCSC Ensembl
Innerchr6:31359621..31457621hg19UCSC Ensembl
Innerchr6:31467600..31565600hg18UCSC Ensembl
Innerchr6:31467600..31565600hg17UCSC Ensembl
Cytoband6p21.33
Allele length
AssemblyAllele length
hg3898001
hg1998001
hg1898001
hg1798001
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv215e55
Supporting Variantsessv6988234, essv6979741, essv6979742, essv6989116, essv6979740
SamplesNA18620
Known GenesHCG26, HCP5, MICA
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)esv34991
Frequency
Sample Size771
Observed Gain0
Observed Loss5
Observed Complex0
Frequencyn/a


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