A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2763903



Internal ID10377939
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:110405809..110496781hg38UCSC Ensembl
Innerchr5:109741510..109832482hg19UCSC Ensembl
Innerchr5:109769409..109860381hg18UCSC Ensembl
Cytoband5q22.1
Allele length
AssemblyAllele length
hg3890973
hg1990973
hg1890973
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7031377, essv7031376
SamplesSW_1229, SW_0352
Known GenesTMEM232
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)esv2763903
Frequency
Sample Size1109
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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