A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2761058



Internal ID10028420
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:167283022..167382425hg38UCSC Ensembl
Innerchr6:167696510..167795913hg19UCSC Ensembl
Innerchr6:167616500..167715903hg18UCSC Ensembl
Cytoband6q27
Allele length
AssemblyAllele length
hg3899404
hg1999404
hg1899404
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7014377, essv7014376, essv7014374, essv7014375, essv7014373
SamplesRW_0180, RW_0544, RW_0248, RW_0529, RW_0522
Known GenesTCP10, TTLL2, UNC93A
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)esv2761058
Frequency
Sample Size1109
Observed Gain5
Observed Loss0
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer