A curated catalogue of human genomic structural variation




Variant Details

Variant: essv7011903



Internal ID10343587
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:144564586..144597021hg38UCSC Ensembl
Innerchr4:145485738..145518173hg19UCSC Ensembl
Innerchr4:145705188..145737623hg18UCSC Ensembl
Cytoband4q31.21
Allele length
AssemblyAllele length
hg3832436
hg1932436
hg1832436
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2762468
Supporting Variants
SamplesRW_0308
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)essv7011903
Frequency
Sample Size1109
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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