A curated catalogue of human genomic structural variation




Variant Details

Variant: essv7018311



Internal ID10025551
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:131980269..132192510hg38UCSC Ensembl
Innerchr2:132737842..132950083hg19UCSC Ensembl
Innerchr2:132454312..132666553hg18UCSC Ensembl
Cytoband2q21.2
Allele length
AssemblyAllele length
hg38212242
hg19212242
hg18212242
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2763165
Supporting Variants
SamplesSW_1436
Known GenesANKRD30BL
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)essv7018311
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