A curated catalogue of human genomic structural variation




Variant Details

Variant: essv7032357



Internal ID10016027
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:86547246..86637605hg38UCSC Ensembl
Innerchr1:87012929..87103288hg19UCSC Ensembl
Innerchr1:86785517..86875876hg18UCSC Ensembl
Cytoband1p22.3
Allele length
AssemblyAllele length
hg3890360
hg1990360
hg1890360
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2761188
Supporting Variants
SamplesSW_1048
Known GenesCLCA3P, CLCA4
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)essv7032357
Frequency
Sample Size1109
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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