A curated catalogue of human genomic structural variation




Variant Details

Variant: essv7028510



Internal ID10017318
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:196932530..196955067hg38UCSC Ensembl
Innerchr3:196659401..196681938hg19UCSC Ensembl
Innerchr3:198143798..198166335hg18UCSC Ensembl
Cytoband3q29
Allele length
AssemblyAllele length
hg3822538
hg1922538
hg1822538
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2763775
Supporting Variants
SamplesSW_1092
Known GenesNCBP2, NCBP2-AS2, PIGZ, SENP5
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)essv7028510
Frequency
Sample Size1109
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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