A curated catalogue of human genomic structural variation




Variant Details

Variant: essv7021889



Internal ID10356144
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:201518051..201546687hg38UCSC Ensembl
Innerchr2:202382774..202411410hg19UCSC Ensembl
Innerchr2:202091019..202119655hg18UCSC Ensembl
Cytoband2q33.1
Allele length
AssemblyAllele length
hg3828637
hg1928637
hg1828637
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2763059
Supporting Variants
SamplesSW_0352
Known GenesALS2CR11
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)essv7021889
Frequency
Sample Size1109
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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