A curated catalogue of human genomic structural variation




Variant Details

Variant: essv7025630



Internal ID9993493
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr19:40835684..40863804hg38UCSC Ensembl
Innerchr19:41341589..41369709hg19UCSC Ensembl
Innerchr19:46033429..46061549hg18UCSC Ensembl
Cytoband19q13.2
Allele length
AssemblyAllele length
hg3828121
hg1928121
hg1828121
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2760509
Supporting Variants
SamplesRW_0215
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)essv7025630
Frequency
Sample Size1109
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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