A curated catalogue of human genomic structural variation




Variant Details

Variant: essv7012079



Internal ID10332746
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:157808285..157810222hg38UCSC Ensembl
Innerchr4:158729437..158731374hg19UCSC Ensembl
Innerchr4:158948887..158950824hg18UCSC Ensembl
Cytoband4q32.1
Allele length
AssemblyAllele length
hg381938
hg191938
hg181938
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2760875
Supporting Variants
SamplesRW_0029
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)essv7012079
Frequency
Sample Size1109
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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