A curated catalogue of human genomic structural variation




Variant Details

Variant: essv7021585



Internal ID10347981
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr13:57215580..57404533hg38UCSC Ensembl
Innerchr13:57789714..57978667hg19UCSC Ensembl
Innerchr13:56687715..56876668hg18UCSC Ensembl
Cytoband13q21.1
Allele length
AssemblyAllele length
hg38188954
hg19188954
hg18188954
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2760317
Supporting Variants
SamplesRW_0579
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)essv7021585
Frequency
Sample Size1109
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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