A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6997204



Internal ID10015173
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:31116364..31249756hg38UCSC Ensembl
Innerchr12:31269298..31402690hg19UCSC Ensembl
Innerchr12:31160565..31293957hg18UCSC Ensembl
Cytoband12p11.21
Allele length
AssemblyAllele length
hg38133393
hg19133393
hg18133393
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2760888
Supporting Variants
SamplesSW_1012
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)essv6997204
Frequency
Sample Size1109
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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