A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6962



Internal ID9628820
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr11:74176522..74846552hg38UCSC Ensembl
Innerchr11:73887567..74557597hg19UCSC Ensembl
Innerchr11:73565215..74235245hg18UCSC Ensembl
Innerchr11:73565215..74235245hg17UCSC Ensembl
Cytoband11q13.4
Allele length
AssemblyAllele length
hg38670031
hg19670031
hg18670031
hg17670031
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2758277
Supporting Variants
SamplesNA18582
Known GenesCHRDL2, KCNE3, LIPT2, MIR4696, P4HA3, PGM2L1, POLD3, PPME1, RNF169, XRRA1
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)essv6962
Frequency
Sample Size270
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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