A curated catalogue of human genomic structural variation




Variant Details

Variant: essv23843



Internal ID9622384
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr11:409846..1061564hg38UCSC Ensembl
Innerchr11:409846..1061564hg19UCSC Ensembl
Innerchr11:399846..1051564hg18UCSC Ensembl
Innerchr11:399846..1051564hg17UCSC Ensembl
Cytoband11p15.5
Allele length
AssemblyAllele length
hg38651719
hg19651719
hg18651719
hg17651719
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2758250
Supporting Variants
SamplesNA07022
Known GenesANO9, AP2A2, C11orf35, CD151, CDHR5, CEND1, CHID1, DEAF1, DRD4, EFCAB4A, EPS8L2, HRAS, IRF7, LOC143666, LRRC56, MIR210, MIR210HG, MUC6, NS3BP, PDDC1, PHRF1, PIDD, PNPLA2, POLR2L, PTDSS2, RASSF7, RNH1, RPLP2, SCT, SIGIRR, SLC25A22, SNORA52, TALDO1, TMEM80, TSPAN4
MethodBAC aCGH
AnalysisArray images were acquired using an Agilent laser scanner (Agilent Technologies, UK). Fluorescence intensities and log2 ratio values were extracted using Bluefuse software (Bluegnome Ltd).
PlatformAgilent
Comments
ReferenceRedon_et_al_2006
Pubmed ID17122850
Accession Number(s)essv23843
Frequency
Sample Size270
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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