A curated catalogue of human genomic structural variation




Variant Details

Variant: essv17906



Internal ID9615787
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr20:26077464..26253212hg38UCSC Ensembl
Innerchr20:26058100..26233848hg19UCSC Ensembl
Innerchr20:26006100..26181848hg18UCSC Ensembl
Innerchr20:26006100..26181848hg17UCSC Ensembl
Cytoband20p11.1
Allele length
AssemblyAllele length
hg38175749
hg19175749
hg18175749
hg17175749
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2758517
Supporting Variants
SamplesNA12003
Known GenesFAM182A, LOC284801, MIR663A, NCOR1P1
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)essv17906
Frequency
Sample Size270
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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