A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6980



Internal ID9965749
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr18:15161380..15377894hg38UCSC Ensembl
Innerchr18:15161379..15377893hg19UCSC Ensembl
Innerchr18:15151379..15367893hg18UCSC Ensembl
Innerchr18:15151379..15367893hg17UCSC Ensembl
Cytoband18p11.21
Allele length
AssemblyAllele length
hg38216515
hg19216515
hg18216515
hg17216515
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2758472
Supporting Variants
SamplesNA18612
Known GenesLOC644669
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)essv6980
Frequency
Sample Size270
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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