A curated catalogue of human genomic structural variation




Variant Details

Variant: essv7025653



Internal ID9985022
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr19:40854238..40886980hg38UCSC Ensembl
Innerchr19:41360143..41392885hg19UCSC Ensembl
Innerchr19:46051983..46084725hg18UCSC Ensembl
Cytoband19q13.2
Allele length
AssemblyAllele length
hg3832743
hg1932743
hg1832743
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2760509
Supporting Variants
SamplesRW_0005
Known GenesCYP2A7
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)essv7025653
Frequency
Sample Size1109
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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