A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2760144



Internal ID10027507
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr10:101373136..101580586hg38UCSC Ensembl
Innerchr10:103132893..103340343hg19UCSC Ensembl
Innerchr10:103122883..103330333hg18UCSC Ensembl
Cytoband10q24.32
Allele length
AssemblyAllele length
hg38207451
hg19207451
hg18207451
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6995208, essv6995209, essv6995207
SamplesSW_1053, SW_1481, SW_1012
Known GenesBTRC, POLL
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)esv2760144
Frequency
Sample Size1109
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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