A curated catalogue of human genomic structural variation




Variant Details

Variant: esv35147



Internal ID12991183
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr11:55677818..55853223hg38UCSC Ensembl
Innerchr11:55445294..55620699hg19UCSC Ensembl
Innerchr11:55201870..55377275hg18UCSC Ensembl
Innerchr11:55201870..55377275hg17UCSC Ensembl
Cytoband11q11
Allele length
AssemblyAllele length
hg38175406
hg19175406
hg18175406
hg17175406
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv51e55
Supporting Variantsessv6987812, essv6980551, essv6980554, essv6980552, essv6980553
SamplesNA19209
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)esv35147
Frequency
Sample Size771
Observed Gain0
Observed Loss5
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer