A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6025



Internal ID9627780
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr14:59940776..60116323hg38UCSC Ensembl
Innerchr14:60407494..60583041hg19UCSC Ensembl
Innerchr14:59477247..59652794hg18UCSC Ensembl
Innerchr14:59477247..59652794hg17UCSC Ensembl
Cytoband14q23.1
Allele length
AssemblyAllele length
hg38175548
hg19175548
hg18175548
hg17175548
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2758360
Supporting Variants
SamplesNA18571
Known GenesLRRC9, PCNXL4
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)essv6025
Frequency
Sample Size270
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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