A curated catalogue of human genomic structural variation




Variant Details

Variant: essv7003514



Internal ID10012959
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr19:43156587..43342242hg38UCSC Ensembl
Innerchr19:43660739..43846394hg19UCSC Ensembl
Innerchr19:48352579..48538234hg18UCSC Ensembl
Cytoband19q13.31
Allele length
AssemblyAllele length
hg38185656
hg19185656
hg18185656
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2763121
Supporting Variants
SamplesSW_0789
Known GenesLOC284344, PSG4, PSG5, PSG9
MethodMerging
AnalysisTwo different algorithms (PennCNV and Birdseye) were applied to detect CNVs. Only congruent CNV events regarding direction of effect that were detected by both algorithms were merged using the outer borders of the event in a first step. In a second step only CNVs that were detected in at least two individuals were merged into a CNVR.
PlatformMerging
Comments
ReferenceVogler_et_al_2010
Pubmed ID21179565
Accession Number(s)essv7003514
Frequency
Sample Size1109
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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