A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2760371



Internal ID10376679
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr15:87358251..87389541hg38UCSC Ensembl
Innerchr15:87901482..87932772hg19UCSC Ensembl
Innerchr15:85702486..85733776hg18UCSC Ensembl
Cytoband15q25.3
Allele length
AssemblyAllele length
hg3831291
hg1931291
hg1831291
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7023518, essv7023536, essv7023531, essv7023537, essv7023528, essv7023529, essv7023527, essv7023519, essv7023523, essv7023525, essv7023517, essv7023535, essv7023539, essv7023524, essv7023520, essv7023530, essv7023532, essv7023538, essv7023534, essv7023526
SamplesRW_0620, RW_0583, RW_0039, RW_0239, RW_0058, RW_0330, RW_0189, RW_0549, RW_0228, RW_0600, RW_0281, RW_0524, RW_0333, RW_0193, RW_0067, RW_0278, RW_0331, RW_0126, RW_0518, RW_0041
Known Genes
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)esv2760371
Frequency
Sample Size1109
Observed Gain0
Observed Loss20
Observed Complex0
Frequencyn/a


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