A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6999255



Internal ID10361888
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:152583230..152614118hg38UCSC Ensembl
Innerchr1:152555706..152586594hg19UCSC Ensembl
Innerchr1:150822330..150853218hg18UCSC Ensembl
Cytoband1q21.3
Allele length
AssemblyAllele length
hg3830889
hg1930889
hg1830889
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2762965
Supporting Variants
SamplesSW_1013
Known GenesLCE3B, LCE3C
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)essv6999255
Frequency
Sample Size1109
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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