A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2760257



Internal ID10027620
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:99579767..99636844hg38UCSC Ensembl
Innerchr12:99973545..100030622hg19UCSC Ensembl
Innerchr12:98497676..98554753hg18UCSC Ensembl
Cytoband12q23.1
Allele length
AssemblyAllele length
hg3857078
hg1957078
hg1857078
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7021094, essv7021086, essv7021080, essv7021073, essv7021084, essv7021088, essv7021092, essv7021093, essv7021090, essv7021081, essv7021083, essv7021082, essv7021076, essv7021075, essv7021085, essv7021079, essv7021074, essv7021091, essv7021087
SamplesRW_0504, RW_0221, RW_0619, RW_0173, RW_0541, RW_0277, RW_0595, RW_0031, RW_0549, RW_0069, RW_0224, RW_0166, RW_0249, RW_0589, RW_0156, RW_0263, RW_0017, RW_0353, RW_0635
Known GenesANKS1B
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)esv2760257
Frequency
Sample Size1109
Observed Gain0
Observed Loss19
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer