A curated catalogue of human genomic structural variation




Variant Details

Variant: essv7021020



Internal ID10337539
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:92935233..92939094hg38UCSC Ensembl
Innerchr12:93329009..93332870hg19UCSC Ensembl
Innerchr12:91853140..91857001hg18UCSC Ensembl
Cytoband12q22
Allele length
AssemblyAllele length
hg383862
hg193862
hg183862
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2762997
Supporting Variants
SamplesRW_0158
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)essv7021020
Frequency
Sample Size1109
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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