A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2763206



Internal ID10375886
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr19:44381218..44437545hg38UCSC Ensembl
Innerchr19:44885379..44941728hg19UCSC Ensembl
Innerchr19:49577219..49633568hg18UCSC Ensembl
Cytoband19q13.31
Allele length
AssemblyAllele length
hg3856328
hg1956350
hg1856350
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7025779
SamplesRW_0586
Known GenesZNF229, ZNF285
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)esv2763206
Frequency
Sample Size1109
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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