A curated catalogue of human genomic structural variation




Variant Details

Variant: essv2199



Internal ID9620324
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:21347629..22515583hg38UCSC Ensembl
Innerchr17:21250941..22014909hg19UCSC Ensembl
Innerchr17:21191534..21939036hg18UCSC Ensembl
Innerchr17:21191534..21939036hg17UCSC Ensembl
Cytoband17p11.2
Allele length
AssemblyAllele length
hg381167955
hg19763969
hg18747503
hg17747503
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2758446
Supporting Variants
SamplesNA18960
Known GenesC17orf51, FAM27L, FLJ36000, KCNJ12, KCNJ18
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)essv2199
Frequency
Sample Size270
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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