A curated catalogue of human genomic structural variation




Variant Details

Variant: essv2506



Internal ID9972327
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr14:83670114..83827496hg38UCSC Ensembl
Innerchr14:84136458..84293840hg19UCSC Ensembl
Innerchr14:83206211..83363593hg18UCSC Ensembl
Innerchr14:83206211..83363593hg17UCSC Ensembl
Cytoband14q31.2
Allele length
AssemblyAllele length
hg38157383
hg19157383
hg18157383
hg17157383
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2758365
Supporting Variants
SamplesNA19003
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)essv2506
Frequency
Sample Size270
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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