A curated catalogue of human genomic structural variation




Variant Details

Variant: essv9193



Internal ID9974033
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr13:112722543..113036887hg38UCSC Ensembl
Innerchr13:113376857..113691201hg19UCSC Ensembl
Innerchr13:112424858..112739202hg18UCSC Ensembl
Innerchr13:112424858..112739202hg17UCSC Ensembl
Cytoband13q34
Allele length
AssemblyAllele length
hg38314345
hg19314345
hg18314345
hg17314345
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2758346
Supporting Variants
SamplesNA19128
Known GenesATP11A, MCF2L, MCF2L-AS1
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)essv9193
Frequency
Sample Size270
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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