A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2760149



Internal ID10376457
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr10:5623495..5682419hg38UCSC Ensembl
Innerchr10:5665458..5724382hg19UCSC Ensembl
Innerchr10:5705464..5764388hg18UCSC Ensembl
Cytoband10p15.1
Allele length
AssemblyAllele length
hg3858925
hg1958925
hg1858925
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7018146, essv7018147, essv7018143, essv7018145, essv7018140, essv7018138, essv7018141, essv7018142, essv7018139
SamplesRW_0615, RW_0502, RW_0212, RW_0036, RW_0663, RW_0605, RW_0200, RW_0183, RW_0207
Known GenesASB13
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)esv2760149
Frequency
Sample Size1109
Observed Gain9
Observed Loss0
Observed Complex0
Frequencyn/a


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