A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2761099



Internal ID10028461
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:70427312..70502576hg38UCSC Ensembl
Innerchr12:70821092..70896356hg19UCSC Ensembl
Innerchr12:69107359..69182623hg18UCSC Ensembl
Cytoband12q15
Allele length
AssemblyAllele length
hg3875265
hg1975265
hg1875265
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6997437, essv6997436, essv6997433, essv6997435
SamplesSW_0626, SW_1240, SW_0164, SW_0170
Known GenesKCNMB4
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)esv2761099
Frequency
Sample Size1109
Observed Gain1
Observed Loss3
Observed Complex0
Frequencyn/a


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