A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2759977



Internal ID9982122
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+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv2758351
SamplesNA18563, NA07048, NA18976, NA18945, NA18953, NA18505, NA18612
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)esv2759977
Frequency
Sample Size270
Observed Gain5
Observed Loss2
Observed Complex0
Frequencyn/a


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