A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2761858



Internal ID10029208
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr15:27159610..27163961hg38UCSC Ensembl
Innerchr15:27404757..27409108hg19UCSC Ensembl
Innerchr15:24987503..24991854hg18UCSC Ensembl
Cytoband15q12
Allele length
AssemblyAllele length
hg384352
hg194352
hg184352
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6999825
SamplesSW_0673
Known GenesGABRG3
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)esv2761858
Frequency
Sample Size1109
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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