A curated catalogue of human genomic structural variation




Variant Details

Variant: essv7021814



Internal ID10348397
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr13:103116470..103143662hg38UCSC Ensembl
Innerchr13:103768820..103796012hg19UCSC Ensembl
Innerchr13:102566821..102594013hg18UCSC Ensembl
Cytoband13q33.1
Allele length
AssemblyAllele length
hg3827193
hg1927193
hg1827193
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2760296
Supporting Variants
SamplesRW_0590
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)essv7021814
Frequency
Sample Size1109
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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