A curated catalogue of human genomic structural variation




Variant Details

Variant: essv7003289



Internal ID10018502
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:179354603..179406062hg38UCSC Ensembl
Innerchr1:179323738..179375197hg19UCSC Ensembl
Innerchr1:177590361..177641820hg18UCSC Ensembl
Cytoband1q25.2
Allele length
AssemblyAllele length
hg3851460
hg1951460
hg1851460
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2762031
Supporting Variants
SamplesSW_1128
Known GenesAXDND1, SOAT1
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)essv7003289
Frequency
Sample Size1109
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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