A curated catalogue of human genomic structural variation




Variant Details

Variant: essv7011231



Internal ID10339983
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:72553717..72559595hg38UCSC Ensembl
Innerchr4:73419434..73425312hg19UCSC Ensembl
Innerchr4:73638298..73644176hg18UCSC Ensembl
Cytoband4q13.3
Allele length
AssemblyAllele length
hg385879
hg195879
hg185879
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2760818
Supporting Variants
SamplesRW_0211
Known GenesADAMTS3
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)essv7011231
Frequency
Sample Size1109
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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