A curated catalogue of human genomic structural variation




Variant Details

Variant: essv7025353



Internal ID10002087
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr19:15669533..15714929hg38UCSC Ensembl
Innerchr19:15780343..15825739hg19UCSC Ensembl
Innerchr19:15641343..15686739hg18UCSC Ensembl
Cytoband19p13.12
Allele length
AssemblyAllele length
hg3845397
hg1945397
hg1845397
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2760506
Supporting Variants
SamplesRW_0600
Known GenesCYP4F12
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)essv7025353
Frequency
Sample Size1109
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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