A curated catalogue of human genomic structural variation




Variant Details

Variant: essv7021405



Internal ID10337329
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr13:43512797..43688483hg38UCSC Ensembl
Innerchr13:44086933..44262619hg19UCSC Ensembl
Innerchr13:42984933..43160619hg18UCSC Ensembl
Cytoband13q14.11
Allele length
AssemblyAllele length
hg38175687
hg19175687
hg18175687
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2763018
Supporting Variants
SamplesRW_0152
Known GenesENOX1
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)essv7021405
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