A curated catalogue of human genomic structural variation




Variant Details

Variant: essv5328



Internal ID9964239
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr14:27595893..27974036hg38UCSC Ensembl
Innerchr14:28065099..28443242hg19UCSC Ensembl
Innerchr14:27134939..27513082hg18UCSC Ensembl
Innerchr14:27134939..27513082hg17UCSC Ensembl
Cytoband14q12
Allele length
AssemblyAllele length
hg38378144
hg19378144
hg18378144
hg17378144
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2758351
Supporting Variants
SamplesNA18563
Known GenesLINC00645
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)essv5328
Frequency
Sample Size270
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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