A curated catalogue of human genomic structural variation




Variant Details

Variant: essv17123



Internal ID9614918
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:16623742..16914123hg38UCSC Ensembl
Innerchr17:16527056..16817437hg19UCSC Ensembl
Innerchr17:16467781..16758162hg18UCSC Ensembl
Innerchr17:16467781..16758162hg17UCSC Ensembl
Cytoband17p11.2
Allele length
AssemblyAllele length
hg38290382
hg19290382
hg18290382
hg17290382
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2758442
Supporting Variants
SamplesNA19171
Known GenesCCDC144A, FAM106CP, KRT16P2, USP32P1, ZNF624
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)essv17123
Frequency
Sample Size270
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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