A curated catalogue of human genomic structural variation




Variant Details

Variant: essv7016131



Internal ID10350404
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:12305230..12412203hg38UCSC Ensembl
Innerchr8:12162739..12269712hg19UCSC Ensembl
Innerchr8:12207108..12314083hg18UCSC Ensembl
Cytoband8p23.1
Allele length
AssemblyAllele length
hg38106974
hg19106974
hg18106976
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2761239
Supporting Variants
SamplesRW_0639
Known GenesDEFB109P1, DEFB130, FAM66A, LOC100133267, LOC649352
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)essv7016131
Frequency
Sample Size1109
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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