A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6997400



Internal ID10025854
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:55313203..55326837hg38UCSC Ensembl
Innerchr12:55706987..55720621hg19UCSC Ensembl
Innerchr12:53993254..54006888hg18UCSC Ensembl
Cytoband12q13.2
Allele length
AssemblyAllele length
hg3813635
hg1913635
hg1813635
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2761740
Supporting Variants
SamplesSW_1447
Known GenesOR6C1
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)essv6997400
Frequency
Sample Size1109
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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