A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2762500



Internal ID10375298
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:16815380..16952456hg38UCSC Ensembl
Innerchr5:16815489..16952565hg19UCSC Ensembl
Innerchr5:16868489..17005565hg18UCSC Ensembl
Cytoband5p15.1
Allele length
AssemblyAllele length
hg38137077
hg19137077
hg18137077
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7012643
SamplesRW_0075
Known GenesMYO10
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)esv2762500
Frequency
Sample Size1109
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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