A curated catalogue of human genomic structural variation




Variant Details

Variant: esv34793



Internal ID12990829
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr11:55609530..55853223hg38UCSC Ensembl
Innerchr11:55377006..55620699hg19UCSC Ensembl
Innerchr11:55133582..55377275hg18UCSC Ensembl
Innerchr11:55133582..55377275hg17UCSC Ensembl
Cytoband11q11
Allele length
AssemblyAllele length
hg38243694
hg19243694
hg18243694
hg17243694
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv50e55
Supporting Variantsessv6989020, essv6978404, essv6987385
SamplesNA19093
Known GenesOR4C6, OR4P4, OR4S2, OR5D13, 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)esv34793
Frequency
Sample Size771
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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