A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2760519



Internal ID10027882
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr19:35358159..35370946hg38UCSC Ensembl
Innerchr19:35849061..35861848hg19UCSC Ensembl
Innerchr19:40540901..40553688hg18UCSC Ensembl
Cytoband19q13.12
Allele length
AssemblyAllele length
hg3812788
hg1912788
hg1812788
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7025595, essv7025597, essv7025594, essv7025596, essv7025593, essv7025598
SamplesRW_0013, RW_0620, RW_0031, RW_0174, RW_0330, RW_0639
Known GenesFFAR3
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)esv2760519
Frequency
Sample Size1109
Observed Gain0
Observed Loss6
Observed Complex0
Frequencyn/a


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