A curated catalogue of human genomic structural variation




Variant Details

Variant: essv7023399



Internal ID10015936
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:223755950..223760359hg38UCSC Ensembl
Innerchr2:224620667..224625076hg19UCSC Ensembl
Innerchr2:224328911..224333320hg18UCSC Ensembl
Cytoband2q36.1
Allele length
AssemblyAllele length
hg384410
hg194410
hg184410
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2763107
Supporting Variants
SamplesSW_1045
Known GenesAP1S3
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)essv7023399
Frequency
Sample Size1109
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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