A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6999654



Internal ID10024391
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr15:23913120..24630322hg38UCSC Ensembl
Innerchr15:24158267..24875469hg19UCSC Ensembl
Innerchr15:21709360..22426562hg18UCSC Ensembl
Cytoband15q11.2
Allele length
AssemblyAllele length
hg38717203
hg19717203
hg18717203
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2761710
Supporting Variants
SamplesSW_1387
Known GenesPWRN1, PWRN2
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)essv6999654
Frequency
Sample Size1109
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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