A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6998252



Internal ID10355062
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr13:105807495..105812587hg38UCSC Ensembl
Innerchr13:106459844..106464936hg19UCSC Ensembl
Innerchr13:105257845..105262937hg18UCSC Ensembl
Cytoband13q33.2
Allele length
AssemblyAllele length
hg385093
hg195093
hg185093
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2761818
Supporting Variants
SamplesSW_0201
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)essv6998252
Frequency
Sample Size1109
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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