A curated catalogue of human genomic structural variation




Variant Details

Variant: essv7020817



Internal ID9992734
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:31473798..31756974hg38UCSC Ensembl
Innerchr12:31626732..31909908hg19UCSC Ensembl
Innerchr12:31517999..31801175hg18UCSC Ensembl
Cytoband12p11.21
Allele length
AssemblyAllele length
hg38283177
hg19283177
hg18283177
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2760267
Supporting Variants
SamplesRW_0200
Known GenesAMN1, DENND5B, DENND5B-AS1, METTL20
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)essv7020817
Frequency
Sample Size1109
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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