A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2760380



Internal ID10376688
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr15:56217925..56237757hg38UCSC Ensembl
Innerchr15:56510123..56529955hg19UCSC Ensembl
Innerchr15:54297415..54317247hg18UCSC Ensembl
Cytoband15q21.3
Allele length
AssemblyAllele length
hg3819833
hg1919833
hg1819833
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7023280, essv7023282, essv7023281
SamplesRW_0526, RW_0065, RW_0191
Known GenesRFX7
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)esv2760380
Frequency
Sample Size1109
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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