A curated catalogue of human genomic structural variation




Variant Details

Variant: essv7011072



Internal ID10344967
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:69257792..69374271hg38UCSC Ensembl
Innerchr4:70123510..70239989hg19UCSC Ensembl
Innerchr4:70158099..70274578hg18UCSC Ensembl
Cytoband4q13.2
Allele length
AssemblyAllele length
hg38116480
hg19116480
hg18116480
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2760898
Supporting Variants
SamplesRW_0359
Known GenesUGT2B28
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)essv7011072
Frequency
Sample Size1109
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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