A curated catalogue of human genomic structural variation




Variant Details

Variant: essv7006022



Internal ID10370995
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:242880979..242917245hg38UCSC Ensembl
Innerchr1:243044281..243080547hg19UCSC Ensembl
Innerchr1:241110904..241147170hg18UCSC Ensembl
Cytoband1q43
Allele length
AssemblyAllele length
hg3836267
hg1936267
hg1836267
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2763747
Supporting Variants
SamplesSW_1381
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)essv7006022
Frequency
Sample Size1109
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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