A curated catalogue of human genomic structural variation




Variant Details

Variant: essv7025293



Internal ID10346258
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr19:12405336..12435375hg38UCSC Ensembl
Innerchr19:12516150..12546189hg19UCSC Ensembl
Innerchr19:12377150..12407189hg18UCSC Ensembl
Cytoband19p13.2
Allele length
AssemblyAllele length
hg3830040
hg1930040
hg1830040
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2760528
Supporting Variants
SamplesRW_0530
Known GenesZNF443
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)essv7025293
Frequency
Sample Size1109
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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