A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2761032



Internal ID10377339
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:61391353..61436601hg38UCSC Ensembl
Innerchr12:61785134..61830382hg19UCSC Ensembl
Innerchr12:60071401..60116649hg18UCSC Ensembl
Cytoband12q14.1
Allele length
AssemblyAllele length
hg3845249
hg1945249
hg1845249
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6997405, essv6997404
SamplesSW_1031, SW_1408
Known Genes
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)esv2761032
Frequency
Sample Size1109
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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