A curated catalogue of human genomic structural variation




Variant Details

Variant: essv12179



Internal ID9609424
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:102859548..103021288hg38UCSC Ensembl
Innerchr4:103780705..103942445hg19UCSC Ensembl
Innerchr4:103999805..104161894hg18UCSC Ensembl
Innerchr4:104137960..104300049hg17UCSC Ensembl
Cytoband4q24
Allele length
AssemblyAllele length
hg38161741
hg19161741
hg18162090
hg17162090
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2757946
Supporting Variants
SamplesNA19101
Known GenesCISD2, SLC9B1, UBE2D3
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)essv12179
Frequency
Sample Size270
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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