A curated catalogue of human genomic structural variation




Variant Details

Variant: essv7018333



Internal ID10357735
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:134183584..134194277hg38UCSC Ensembl
Innerchr2:134941155..134951848hg19UCSC Ensembl
Innerchr2:134657625..134668318hg18UCSC Ensembl
Cytoband2q21.2
Allele length
AssemblyAllele length
hg3810694
hg1910694
hg1810694
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2762861
Supporting Variants
SamplesSW_0624
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)essv7018333
Frequency
Sample Size1109
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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