A curated catalogue of human genomic structural variation




Variant Details

Variant: essv1137



Internal ID9969913
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr19:8786994..8861171hg38UCSC Ensembl
Innerchr19:8897670..8971847hg19UCSC Ensembl
Innerchr19:8758670..8832847hg18UCSC Ensembl
Innerchr19:8758670..8832847hg17UCSC Ensembl
Cytoband19p13.2
Allele length
AssemblyAllele length
hg3874178
hg1974178
hg1874178
hg1774178
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2758486
Supporting Variants
SamplesNA18964
Known GenesMBD3L1, MUC16, ZNF558
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)essv1137
Frequency
Sample Size270
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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