A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2757749



Internal ID9633208
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+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsesv2758964
Supporting Variantsessv16001, essv5235, essv6886
SamplesNA18605, NA18501, NA18624
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)esv2757749
Frequency
Sample Size270
Observed Gain2
Observed Loss1
Observed Complex0
Frequencyn/a


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