A curated catalogue of human genomic structural variation




Variant Details

Variant: essv7021227



Internal ID10349966
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr13:19437499..19572361hg38UCSC Ensembl
Innerchr13:20011639..20146501hg19UCSC Ensembl
Innerchr13:18909639..19044501hg18UCSC Ensembl
Cytoband13q12.11
Allele length
AssemblyAllele length
hg38134863
hg19134863
hg18134863
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2760291
Supporting Variants
SamplesRW_0626
Known GenesTPTE2
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)essv7021227
Frequency
Sample Size1109
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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