A curated catalogue of human genomic structural variation




Variant Details

Variant: essv7007977



Internal ID10349228
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:122970234..123862120hg38UCSC Ensembl
Innerchr2:123727810..124619697hg19UCSC Ensembl
Innerchr2:123444280..124336167hg18UCSC Ensembl
Cytoband2q14.3
Allele length
AssemblyAllele length
hg38891887
hg19891888
hg18891888
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2760647
Supporting Variants
SamplesRW_0609
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)essv7007977
Frequency
Sample Size1109
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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