A curated catalogue of human genomic structural variation




Variant Details

Variant: essv7023475



Internal ID10335845
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr15:83878525..83901041hg38UCSC Ensembl
Innerchr15:84547277..84569793hg19UCSC Ensembl
Innerchr15:82338281..82360797hg18UCSC Ensembl
Cytoband15q25.2
Allele length
AssemblyAllele length
hg3822517
hg1922517
hg1822517
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2763115
Supporting Variants
SamplesRW_0113
Known GenesADAMTSL3
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)essv7023475
Frequency
Sample Size1109
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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