A curated catalogue of human genomic structural variation




Variant Details

Variant: essv10231



Internal ID9607261
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:62218196..62395480hg38UCSC Ensembl
Innerchr17:60295557..60472841hg19UCSC Ensembl
Innerchr17:57650339..57826573hg18UCSC Ensembl
Innerchr17:57650339..57826573hg17UCSC Ensembl
Cytoband17q23.2
Allele length
AssemblyAllele length
hg38177285
hg19177285
hg18176235
hg17176235
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2758464
Supporting Variants
SamplesNA19152
Known GenesEFCAB3, TBC1D3P2
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)essv10231
Frequency
Sample Size270
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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