A curated catalogue of human genomic structural variation




Variant Details

Variant: essv2695



Internal ID9624079
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr9:131395735..131543226hg38UCSC Ensembl
Innerchr9:134271122..134418613hg19UCSC Ensembl
Innerchr9:133260943..133408434hg18UCSC Ensembl
Innerchr9:131300676..131448167hg17UCSC Ensembl
Cytoband9q34.13
Allele length
AssemblyAllele length
hg38147492
hg19147492
hg18147492
hg17147492
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2758202
Supporting Variants
SamplesNA18967
Known GenesPOMT1, PRRC2B, SNORD62A, SNORD62B, UCK1
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)essv2695
Frequency
Sample Size270
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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