A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6999671



Internal ID10024256
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr15:24137296..24197072hg38UCSC Ensembl
Innerchr15:24382443..24442219hg19UCSC Ensembl
Innerchr15:21933536..21993312hg18UCSC Ensembl
Cytoband15q11.2
Allele length
AssemblyAllele length
hg3859777
hg1959777
hg1859777
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2761710
Supporting Variants
SamplesSW_1379
Known GenesPWRN2
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)essv6999671
Frequency
Sample Size1109
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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