A curated catalogue of human genomic structural variation




Variant Details

Variant: essv7022996



Internal ID10336309
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr15:24819264..24839699hg38UCSC Ensembl
Innerchr15:25064411..25084846hg19UCSC Ensembl
Innerchr15:22615504..22635939hg18UCSC Ensembl
Cytoband15q11.2
Allele length
AssemblyAllele length
hg3820436
hg1920436
hg1820436
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2760389
Supporting Variants
SamplesRW_0123
Known GenesSNRPN
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)essv7022996
Frequency
Sample Size1109
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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