A curated catalogue of human genomic structural variation




Variant Details

Variant: essv18172



Internal ID9616083
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr9:6576991..6838660hg38UCSC Ensembl
Innerchr9:6576991..6838660hg19UCSC Ensembl
Innerchr9:6566991..6828660hg18UCSC Ensembl
Innerchr9:6566991..6828660hg17UCSC Ensembl
Cytoband9p24.1
Allele length
AssemblyAllele length
hg38261670
hg19261670
hg18261670
hg17261670
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2758626
Supporting Variants
SamplesNA12057
Known GenesGLDC, KDM4C
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)essv18172
Frequency
Sample Size270
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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