A curated catalogue of human genomic structural variation




Variant Details

Variant: essv10983



Internal ID9608095
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr9:137303332..137447299hg38UCSC Ensembl
Innerchr9:140197784..140341751hg19UCSC Ensembl
Innerchr9:139317605..139461572hg18UCSC Ensembl
Innerchr9:137473621..137617588hg17UCSC Ensembl
Cytoband9q34.3
Allele length
AssemblyAllele length
hg38143968
hg19143968
hg18143968
hg17143968
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2758205
Supporting Variants
SamplesNA19143
Known GenesENTPD8, EXD3, NOXA1
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)essv10983
Frequency
Sample Size270
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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