A curated catalogue of human genomic structural variation




Variant Details

Variant: essv7003684



Internal ID10355636
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr19:53435080..53510801hg38UCSC Ensembl
Innerchr19:53938333..54014055hg19UCSC Ensembl
Innerchr19:58630145..58705867hg18UCSC Ensembl
Cytoband19q13.41
Allele length
AssemblyAllele length
hg3875722
hg1975723
hg1875723
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2762954
Supporting Variants
SamplesSW_0258
Known GenesTPM3P9, ZNF761, ZNF813
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)essv7003684
Frequency
Sample Size1109
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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