A curated catalogue of human genomic structural variation




Variant Details

Variant: essv19656



Internal ID9959024
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:57187251..57788857hg38UCSC Ensembl
Innerchr4:58053417..58655023hg19UCSC Ensembl
Innerchr4:57748174..58349780hg18UCSC Ensembl
Innerchr4:57894345..58495951hg17UCSC Ensembl
Cytoband4q12
Allele length
AssemblyAllele length
hg38601607
hg19601607
hg18601607
hg17601607
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2757936
Supporting Variants
SamplesNA12264
Known GenesIGFBP7-AS1
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)essv19656
Frequency
Sample Size270
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer