A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2763019



Internal ID10030369
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr13:46774094..47549312hg38UCSC Ensembl
Innerchr13:47348229..48123447hg19UCSC Ensembl
Innerchr13:46246230..47021448hg18UCSC Ensembl
Cytoband13q14.2
Allele length
AssemblyAllele length
hg38775219
hg19775219
hg18775219
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7021406
SamplesRW_0568
Known GenesESD, HTR2A, HTR2A-AS1
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)esv2763019
Frequency
Sample Size1109
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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