A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2763968



Internal ID10378004
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:67008685..68137615hg38UCSC Ensembl
Innerchr6:67718578..68847507hg19UCSC Ensembl
Innerchr6:67775299..68904228hg18UCSC Ensembl
Cytoband6q12
Allele length
AssemblyAllele length
hg381128931
hg191128930
hg181128930
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7032330, essv7032331, essv7032329
SamplesSW_0677, SW_1472, SW_0716
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)esv2763968
Frequency
Sample Size1109
Observed Gain1
Observed Loss2
Observed Complex0
Frequencyn/a


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