A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2762052



Internal ID10374850
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr19:55012588..55044464hg38UCSC Ensembl
Innerchr19:55523956..55555832hg19UCSC Ensembl
Innerchr19:60215768..60247644hg18UCSC Ensembl
Cytoband19q13.42
Allele length
AssemblyAllele length
hg3831877
hg1931877
hg1831877
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7003772
SamplesSW_0568
Known GenesGP6, RDH13
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)esv2762052
Frequency
Sample Size1109
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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