A curated catalogue of human genomic structural variation




Variant Details

Variant: essv7003491



Internal ID10009318
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr19:42973282..43134115hg38UCSC Ensembl
Innerchr19:43477434..43638267hg19UCSC Ensembl
Innerchr19:48169274..48330107hg18UCSC Ensembl
Cytoband19q13.31
Allele length
AssemblyAllele length
hg38160834
hg19160834
hg18160834
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2763121
Supporting Variants
SamplesSW_0323
Known GenesPSG11, PSG2
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)essv7003491
Frequency
Sample Size1109
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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