A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2760400



Internal ID10376708
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr15:23396367..23470075hg38UCSC Ensembl
Innerchr15:23641514..23715222hg19UCSC Ensembl
Innerchr15:21192955..21266315hg18UCSC Ensembl
Cytoband15q11.2
Allele length
AssemblyAllele length
hg3873709
hg1973709
hg1873361
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7022847, essv7022849, essv7022845, essv7022842, essv7022851, essv7022841, essv7022848, essv7022844, essv7022850, essv7022846
SamplesRW_0039, RW_0099, RW_0629, RW_0179, RW_0616, RW_0601, RW_0020, RW_0126, RW_0220, RW_0277
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)esv2760400
Frequency
Sample Size1109
Observed Gain4
Observed Loss6
Observed Complex0
Frequencyn/a


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