A curated catalogue of human genomic structural variation




Variant Details

Variant: essv7007910



Internal ID10344004
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:105895267..105930292hg38UCSC Ensembl
Innerchr2:106511723..106546748hg19UCSC Ensembl
Innerchr2:105878155..105913180hg18UCSC Ensembl
Cytoband2q12.2
Allele length
AssemblyAllele length
hg3835026
hg1935026
hg1835026
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2760592
Supporting Variants
SamplesRW_0323
Known Genes
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)essv7007910
Frequency
Sample Size1109
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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