A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6998217



Internal ID10366766
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr13:83531714..83593205hg38UCSC Ensembl
Innerchr13:84105849..84167340hg19UCSC Ensembl
Innerchr13:83003850..83065341hg18UCSC Ensembl
Cytoband13q31.1
Allele length
AssemblyAllele length
hg3861492
hg1961492
hg1861492
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2761165
Supporting Variants
SamplesSW_1195
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)essv6998217
Frequency
Sample Size1109
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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