A curated catalogue of human genomic structural variation




Variant Details

Variant: essv7023468



Internal ID10342696
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr15:76598900..76610855hg38UCSC Ensembl
Innerchr15:76891241..76903196hg19UCSC Ensembl
Innerchr15:74678296..74690251hg18UCSC Ensembl
Cytoband15q24.3
Allele length
AssemblyAllele length
hg3811956
hg1911956
hg1811956
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2760392
Supporting Variants
SamplesRW_0276
Known GenesSCAPER
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)essv7023468
Frequency
Sample Size1109
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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