A curated catalogue of human genomic structural variation




Variant Details

Variant: essv7031376



Internal ID10367583
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:110405809..110466518hg38UCSC Ensembl
Innerchr5:109741510..109802219hg19UCSC Ensembl
Innerchr5:109769409..109830118hg18UCSC Ensembl
Cytoband5q22.1
Allele length
AssemblyAllele length
hg3860710
hg1960710
hg1860710
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2763903
Supporting Variants
SamplesSW_1229
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)essv7031376
Frequency
Sample Size1109
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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