A curated catalogue of human genomic structural variation




Variant Details

Variant: essv7027735



Internal ID10362439
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:130011856..130177533hg38UCSC Ensembl
Innerchr3:129730699..129896376hg19UCSC Ensembl
Innerchr3:131213389..131379066hg18UCSC Ensembl
Cytoband3q21.3
Allele length
AssemblyAllele length
hg38165678
hg19165678
hg18165678
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2763722
Supporting Variants
SamplesSW_1039
Known GenesALG1L2, FAM86HP
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)essv7027735
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