A curated catalogue of human genomic structural variation




Variant Details

Variant: essv7021690



Internal ID10341850
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr13:67747821..67754477hg38UCSC Ensembl
Innerchr13:68321953..68328609hg19UCSC Ensembl
Innerchr13:67219954..67226610hg18UCSC Ensembl
Cytoband13q21.32
Allele length
AssemblyAllele length
hg386657
hg196657
hg186657
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2760309
Supporting Variants
SamplesRW_0255
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)essv7021690
Frequency
Sample Size1109
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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