A curated catalogue of human genomic structural variation




Variant Details

Variant: essv7020779



Internal ID9986826
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:27494808..27506821hg38UCSC Ensembl
Innerchr12:27647741..27659754hg19UCSC Ensembl
Innerchr12:27539008..27551021hg18UCSC Ensembl
Cytoband12p11.23
Allele length
AssemblyAllele length
hg3812014
hg1912014
hg1812014
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2760261
Supporting Variants
SamplesRW_0049
Known GenesSMCO2
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)essv7020779
Frequency
Sample Size1109
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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