A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6990861



Internal ID10353950
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:63128783..63419185hg38UCSC Ensembl
Innerchr7:62589161..62879563hg19UCSC Ensembl
Innerchr7:62226596..62516998hg18UCSC Ensembl
Cytoband7q11.21
Allele length
AssemblyAllele length
hg38290403
hg19290403
hg18290403
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2764031
Supporting Variants
SamplesSW_0147
Known GenesLOC100287704, LOC100287834, ZNF733P
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)essv6990861
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