A curated catalogue of human genomic structural variation




Variant Details

Variant: essv17581



Internal ID9615426
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:157570600..157806036hg38UCSC Ensembl
Innerchr5:156997608..157233044hg19UCSC Ensembl
Innerchr5:156930186..157165622hg18UCSC Ensembl
Innerchr5:156930186..157165622hg17UCSC Ensembl
Cytoband5q33.3
Allele length
AssemblyAllele length
hg38235437
hg19235437
hg18235437
hg17235437
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2758024
Supporting Variants
SamplesNA12762
Known GenesADAM19, C5orf52, CLINT1, LSM11, SOX30, THG1L
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)essv17581
Frequency
Sample Size270
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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