A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2763213



Internal ID10375893
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr19:57788698..57878843hg38UCSC Ensembl
Innerchr19:58300066..58390211hg19UCSC Ensembl
Innerchr19:62991878..63082023hg18UCSC Ensembl
Cytoband19q13.43
Allele length
AssemblyAllele length
hg3890146
hg1990146
hg1890146
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7026107
SamplesRW_0309
Known GenesFKBP1AP1, ZNF552, ZNF587, ZNF587B, ZNF814
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)esv2763213
Frequency
Sample Size1109
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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