A curated catalogue of human genomic structural variation




Variant Details

Variant: essv11621



Internal ID9608805
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:118572764..118753587hg38UCSC Ensembl
Innerchr4:119493919..119674742hg19UCSC Ensembl
Innerchr4:119713367..119894190hg18UCSC Ensembl
Innerchr4:119851522..120032345hg17UCSC Ensembl
Cytoband4q26
Allele length
AssemblyAllele length
hg38180824
hg19180824
hg18180824
hg17180824
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2757952
Supporting Variants
SamplesNA19154
Known GenesLOC729218, METTL14, SEC24D
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)essv11621
Frequency
Sample Size270
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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