A curated catalogue of human genomic structural variation




Variant Details

Variant: essv22140



Internal ID9620493
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr9:130862179..131153174hg38UCSC Ensembl
Innerchr9:133737566..134028561hg19UCSC Ensembl
Innerchr9:132727387..133018382hg18UCSC Ensembl
Innerchr9:130767120..131058115hg17UCSC Ensembl
Cytoband9q34.12
Allele length
AssemblyAllele length
hg38290996
hg19290996
hg18290996
hg17290996
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2758201
Supporting Variants
SamplesNA10857
Known GenesABL1, AIF1L, FIBCD1, LAMC3, NUP214, QRFP
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)essv22140
Frequency
Sample Size270
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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