A curated catalogue of human genomic structural variation




Variant Details

Variant: esv34561



Internal ID12990598
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr11:55677818..55840785hg38UCSC Ensembl
Innerchr11:55445294..55608261hg19UCSC Ensembl
Innerchr11:55201870..55364837hg18UCSC Ensembl
Innerchr11:55201870..55364837hg17UCSC Ensembl
Cytoband11q11
Allele length
AssemblyAllele length
hg38162968
hg19162968
hg18162968
hg17162968
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv51e55
Supporting Variantsessv6988255, essv6979839, essv6979840, essv6979838, essv6979837
SamplesNA18852
Known GenesOR5D13, OR5D14, OR5D16, OR5D18, OR5L1, OR5L2
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)esv34561
Frequency
Sample Size771
Observed Gain0
Observed Loss5
Observed Complex0
Frequencyn/a


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