A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2763099



Internal ID10375779
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr19:50829011..50829982hg38UCSC Ensembl
Innerchr19:51332267..51333238hg19UCSC Ensembl
Innerchr19:56024079..56025050hg18UCSC Ensembl
Cytoband19q13.33
Allele length
AssemblyAllele length
hg38972
hg19972
hg18972
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7003599, essv7003604, essv7003601, essv7003602, essv7003605, essv7003603
SamplesSW_0885, SW_0091, SW_0833, SW_1318, SW_0651, SW_0842
Known GenesKLK15
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)esv2763099
Frequency
Sample Size1109
Observed Gain0
Observed Loss6
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer