A curated catalogue of human genomic structural variation




Variant Details

Variant: essv7025619



Internal ID9987378
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr19:40832930..40875041hg38UCSC Ensembl
Innerchr19:41338835..41380946hg19UCSC Ensembl
Innerchr19:46030675..46072786hg18UCSC Ensembl
Cytoband19q13.2
Allele length
AssemblyAllele length
hg3842112
hg1942112
hg1842112
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2760509
Supporting Variants
SamplesRW_0065
Known GenesCYP2A6
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)essv7025619
Frequency
Sample Size1109
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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