A curated catalogue of human genomic structural variation




Variant Details

Variant: essv24255



Internal ID9622842
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:140777355..141319055hg38UCSC Ensembl
Innerchr5:140156940..140698622hg19UCSC Ensembl
Innerchr5:140137124..140678806hg18UCSC Ensembl
Innerchr5:140137124..140678806hg17UCSC Ensembl
Cytoband5q31.3
Allele length
AssemblyAllele length
hg38541701
hg19541683
hg18541683
hg17541683
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2758019
Supporting Variants
SamplesNA10856
Known GenesLOC101926905, PCDHA1, PCDHA10, PCDHA11, PCDHA12, PCDHA13, PCDHA2, PCDHA3, PCDHA4, PCDHA5, PCDHA6, PCDHA7, PCDHA8, PCDHA9, PCDHAC1, PCDHAC2, PCDHB1, PCDHB10, PCDHB11, PCDHB12, PCDHB13, PCDHB14, PCDHB15, PCDHB16, PCDHB17, PCDHB18, PCDHB19P, PCDHB2, PCDHB3, PCDHB4, PCDHB5, PCDHB6, PCDHB7, PCDHB8, PCDHB9, SLC25A2, TAF7
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)essv24255
Frequency
Sample Size270
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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