A curated catalogue of human genomic structural variation




Variant Details

Variant: essv7023118



Internal ID9995599
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr15:32166460..32584783hg38UCSC Ensembl
Innerchr15:32458661..32876984hg19UCSC Ensembl
Innerchr15:30245953..30664276hg18UCSC Ensembl
Cytoband15q13.3
Allele length
AssemblyAllele length
hg38418324
hg19418324
hg18418324
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2760365
Supporting Variants
SamplesRW_0267
Known GenesCHRNA7, GOLGA8K, GOLGA8O, LOC100996255, ULK4P1, ULK4P2, ULK4P3, WHAMMP1
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)essv7023118
Frequency
Sample Size1109
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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