A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2759701



Internal ID9635160
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr9:83799109..83988687hg38UCSC Ensembl
Innerchr9:86414024..86603602hg19UCSC Ensembl
Innerchr9:85603844..85793422hg18UCSC Ensembl
Innerchr9:83643578..83833156hg17UCSC Ensembl
Cytoband9q21.32
Allele length
AssemblyAllele length
hg38189579
hg19189579
hg18189579
hg17189579
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv2758192
SamplesNA12872
Known GenesC9orf64, GKAP1, HNRNPK, KIF27, MIR7-1, RMI1
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)esv2759701
Frequency
Sample Size270
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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