A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2763207



Internal ID10375887
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr19:46051722..46063597hg38UCSC Ensembl
Innerchr19:46554980..46566855hg19UCSC Ensembl
Innerchr19:51246820..51258695hg18UCSC Ensembl
Cytoband19q13.32
Allele length
AssemblyAllele length
hg3811876
hg1911876
hg1811876
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7025780
SamplesRW_0162
Known Genes
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)esv2763207
Frequency
Sample Size1109
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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