A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2760536



Internal ID10376844
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr19:34939482..34994365hg38UCSC Ensembl
Innerchr19:35430386..35485269hg19UCSC Ensembl
Innerchr19:40122226..40177109hg18UCSC Ensembl
Cytoband19q13.11
Allele length
AssemblyAllele length
hg3854884
hg1954884
hg1854884
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7025585, essv7025586
SamplesRW_0065, RW_0191
Known GenesZNF30, ZNF792
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)esv2760536
Frequency
Sample Size1109
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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