A curated catalogue of human genomic structural variation




Variant Details

Variant: essv7016116



Internal ID10332778
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:12130217..12555293hg38UCSC Ensembl
Innerchr8:11987726..12412802hg19UCSC Ensembl
Innerchr8:12025135..12457173hg18UCSC Ensembl
Cytoband8p23.1
Allele length
AssemblyAllele length
hg38425077
hg19425077
hg18432039
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2761239
Supporting Variants
SamplesRW_0029
Known GenesDEFB109P1, DEFB130, FAM66A, FAM66D, FAM86B1, FAM86B2, FAM90A25P, FAM90A2P, LOC100133267, LOC100506990, LOC649352, LOC729732, USP17L2, USP17L7
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)essv7016116
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