A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2760376



Internal ID10376684
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr15:31707442..32151995hg38UCSC Ensembl
Innerchr15:31999645..32444196hg19UCSC Ensembl
Innerchr15:29786937..30231488hg18UCSC Ensembl
Cytoband15q13.3
Allele length
AssemblyAllele length
hg38444554
hg19444552
hg18444552
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7023090, essv7023093, essv7023092, essv7023088, essv7023095, essv7023094, essv7023091
SamplesRW_0099, RW_0604, RW_0586, RW_0304, RW_0029, RW_0625, RW_0252
Known GenesCHRNA7
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)esv2760376
Frequency
Sample Size1109
Observed Gain6
Observed Loss1
Observed Complex0
Frequencyn/a


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