A curated catalogue of human genomic structural variation




Variant Details

Variant: essv7029475



Internal ID10368864
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:69248737..69374271hg38UCSC Ensembl
Innerchr4:70114455..70239989hg19UCSC Ensembl
Innerchr4:70149044..70274578hg18UCSC Ensembl
Cytoband4q13.2
Allele length
AssemblyAllele length
hg38125535
hg19125535
hg18125535
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2763828
Supporting Variants
SamplesSW_1284
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)essv7029475
Frequency
Sample Size1109
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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