A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2760284



Internal ID10027647
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr13:34990072..35007394hg38UCSC Ensembl
Innerchr13:35564209..35581531hg19UCSC Ensembl
Innerchr13:34462209..34479531hg18UCSC Ensembl
Cytoband13q13.2
Allele length
AssemblyAllele length
hg3817323
hg1917323
hg1817323
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7021359, essv7021358
SamplesRW_0635, RW_0031
Known GenesNBEA
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)esv2760284
Frequency
Sample Size1109
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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