A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2761077



Internal ID10377384
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:56941697..56983725hg38UCSC Ensembl
Innerchr12:57335481..57377509hg19UCSC Ensembl
Innerchr12:55621748..55663776hg18UCSC Ensembl
Cytoband12q13.3
Allele length
AssemblyAllele length
hg3842029
hg1942029
hg1842029
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6997401, essv6997402
SamplesSW_1407, SW_0592
Known GenesRDH16
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)esv2761077
Frequency
Sample Size1109
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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