A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6886



Internal ID9628735
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:119474073..119671954hg38UCSC Ensembl
Innerchr1:120016696..120214577hg19UCSC Ensembl
Innerchr1:119818219..120016100hg18UCSC Ensembl
Innerchr1:119728738..119926619hg17UCSC Ensembl
Cytoband1p12
Allele length
AssemblyAllele length
hg38197882
hg19197882
hg18197882
hg17197882
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2757749
Supporting Variants
SamplesNA18605
Known GenesHSD3B1, HSD3BP4, LINC00622, ZNF697
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)essv6886
Frequency
Sample Size270
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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