A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2763020



Internal ID10030370
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr13:49530919..49618123hg38UCSC Ensembl
Innerchr13:50105055..50192259hg19UCSC Ensembl
Innerchr13:49003056..49090260hg18UCSC Ensembl
Cytoband13q14.2
Allele length
AssemblyAllele length
hg3887205
hg1987205
hg1887205
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7021413
SamplesRW_0318
Known GenesRCBTB1
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)esv2763020
Frequency
Sample Size1109
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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