A curated catalogue of human genomic structural variation




Variant Details

Variant: essv22369



Internal ID9620746
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr19:43151705..43394901hg38UCSC Ensembl
Innerchr19:43655857..43899053hg19UCSC Ensembl
Innerchr19:48347697..48590893hg18UCSC Ensembl
Innerchr19:48347697..48590893hg17UCSC Ensembl
Cytoband19q13.31
Allele length
AssemblyAllele length
hg38243197
hg19243197
hg18243197
hg17243197
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2758501
Supporting Variants
SamplesNA12875
Known GenesCD177, LOC284344, PRG1, PSG4, PSG5, PSG9, TEX101
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)essv22369
Frequency
Sample Size270
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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