A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2760280



Internal ID10027643
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr13:48335049..48337254hg38UCSC Ensembl
Innerchr13:48909185..48911390hg19UCSC Ensembl
Innerchr13:47807186..47809391hg18UCSC Ensembl
Cytoband13q14.2
Allele length
AssemblyAllele length
hg382206
hg192206
hg182206
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7021407, essv7021408, essv7021412, essv7021409
SamplesRW_0635, RW_0600, RW_0589, RW_0518
Known GenesRB1
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)esv2760280
Frequency
Sample Size1109
Observed Gain0
Observed Loss4
Observed Complex0
Frequencyn/a


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