A curated catalogue of human genomic structural variation




Variant Details

Variant: essv7011778



Internal ID10333135
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:121413177..121473964hg38UCSC Ensembl
Innerchr4:122334332..122395119hg19UCSC Ensembl
Innerchr4:122553782..122614569hg18UCSC Ensembl
Cytoband4q27
Allele length
AssemblyAllele length
hg3860788
hg1960788
hg1860788
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2760873
Supporting Variants
SamplesRW_0038
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)essv7011778
Frequency
Sample Size1109
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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