A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6992427



Internal ID10355494
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:12085291..12649562hg38UCSC Ensembl
Innerchr8:11942800..12507071hg19UCSC Ensembl
Innerchr8:11980209..12551442hg18UCSC Ensembl
Cytoband8p23.1
Allele length
AssemblyAllele length
hg38564272
hg19564272
hg18571234
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2764095
Supporting Variants
SamplesSW_0243
Known GenesDEFB109P1, DEFB130, FAM66A, FAM66D, FAM86B1, FAM86B2, FAM90A25P, FAM90A2P, LOC100133267, LOC100506990, LOC392196, LOC649352, LOC729732, USP17L2, USP17L7, ZNF705D
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)essv6992427
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