A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2760267



Internal ID10027630
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+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7020818, essv7020817
SamplesRW_0200, RW_0525
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)esv2760267
Frequency
Sample Size1109
Observed Gain1
Observed Loss1
Observed Complex0
Frequencyn/a


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