A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2758758



Internal ID9634217
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr19:35220175..35396211hg38UCSC Ensembl
Innerchr19:35711078..35887113hg19UCSC Ensembl
Innerchr19:40402918..40578953hg18UCSC Ensembl
Innerchr19:40402918..40578953hg17UCSC Ensembl
Cytoband19q13.12
Allele length
AssemblyAllele length
hg38176037
hg19176036
hg18176036
hg17176036
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv2758497
SamplesNA12707, NA18547, NA12003
Known GenesCD22, FAM187B, FFAR1, FFAR3, HAMP, LSR, MAG, MIR5196, USF2
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)esv2758758
Frequency
Sample Size270
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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