A curated catalogue of human genomic structural variation




Variant Details

Variant: essv18854



Internal ID9959511
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:17364591..17936295hg38UCSC Ensembl
Innerchr5:17364700..17936404hg19UCSC Ensembl
Innerchr5:17417700..17972161hg18UCSC Ensembl
Innerchr5:17417700..17972161hg17UCSC Ensembl
Cytoband5p15.1
Allele length
AssemblyAllele length
hg38571705
hg19571705
hg18554462
hg17554462
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2757986
Supporting Variants
SamplesNA12751
Known GenesLOC401177
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)essv18854
Frequency
Sample Size270
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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