A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2760738



Internal ID10377045
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:136225146..136238491hg38UCSC Ensembl
Innerchr3:135943988..135957333hg19UCSC Ensembl
Innerchr3:137426678..137440023hg18UCSC Ensembl
Cytoband3q22.3
Allele length
AssemblyAllele length
hg3813346
hg1913346
hg1813346
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7009467, essv7009468, essv7009469
SamplesRW_0546, RW_0530, RW_0599
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)esv2760738
Frequency
Sample Size1109
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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