A curated catalogue of human genomic structural variation




Variant Details

Variant: esv34253



Internal ID12990292
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr11:48381200..48908580hg38UCSC Ensembl
Innerchr11:48402752..48930132hg19UCSC Ensembl
Innerchr11:48359328..48886708hg18UCSC Ensembl
Innerchr11:48359328..48886708hg17UCSC Ensembl
Cytoband11p11.12
Allele length
AssemblyAllele length
hg38527381
hg19527381
hg18527381
hg17527381
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv48e55
Supporting Variantsessv6978816, essv6978815, essv6978814
SamplesNA12716
Known GenesOR4A47
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)esv34253
Frequency
Sample Size771
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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