A curated catalogue of human genomic structural variation




Variant Details

Variant: essv7003603



Internal ID10360680
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 StatusS
Merged Variantsesv2763099
Supporting Variants
SamplesSW_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)essv7003603
Frequency
Sample Size1109
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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