A curated catalogue of human genomic structural variation




Variant Details

Variant: essv18650



Internal ID9616614
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:140777355..140947535hg38UCSC Ensembl
Innerchr5:140156940..140327120hg19UCSC Ensembl
Innerchr5:140137124..140307304hg18UCSC Ensembl
Innerchr5:140137124..140307304hg17UCSC Ensembl
Cytoband5q31.3
Allele length
AssemblyAllele length
hg38170181
hg19170181
hg18170181
hg17170181
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2758019
Supporting Variants
SamplesNA12234
Known GenesPCDHA1, PCDHA10, PCDHA11, PCDHA12, PCDHA13, PCDHA2, PCDHA3, PCDHA4, PCDHA5, PCDHA6, PCDHA7, PCDHA8, PCDHA9, PCDHAC1
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)essv18650
Frequency
Sample Size270
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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