A curated catalogue of human genomic structural variation




Variant Details

Variant: essv10857



Internal ID9968082
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr14:45351791..45513207hg38UCSC Ensembl
Innerchr14:45820994..45982410hg19UCSC Ensembl
Innerchr14:44890744..45052160hg18UCSC Ensembl
Innerchr14:44890744..45052160hg17UCSC Ensembl
Cytoband14q21.2
Allele length
AssemblyAllele length
hg38161417
hg19161417
hg18161417
hg17161417
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2758357
Supporting Variants
SamplesNA18871
Known Genes
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)essv10857
Frequency
Sample Size270
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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