A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2758496



Internal ID9633955
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr19:34635113..34801431hg38UCSC Ensembl
Innerchr19:35126018..35292335hg19UCSC Ensembl
Innerchr19:39817858..39984175hg18UCSC Ensembl
Innerchr19:39817858..39984175hg17UCSC Ensembl
Cytoband19q13.11
Allele length
AssemblyAllele length
hg38166319
hg19166318
hg18166318
hg17166318
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsesv2758756
Supporting Variantsessv4610
SamplesNA18524
Known GenesSCGB2B3P, ZNF181, ZNF302, ZNF599
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)esv2758496
Frequency
Sample Size270
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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