A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2763202



Internal ID10375882
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr19:29427528..29430131hg38UCSC Ensembl
Innerchr19:29918435..29921038hg19UCSC Ensembl
Innerchr19:34610275..34612878hg18UCSC Ensembl
Cytoband19q12
Allele length
AssemblyAllele length
hg382604
hg192604
hg182604
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7025581
SamplesRW_0619
Known GenesLOC284395
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)esv2763202
Frequency
Sample Size1109
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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