A curated catalogue of human genomic structural variation




Variant Details

Variant: essv7017049



Internal ID9998868
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:86216014..86259547hg38UCSC Ensembl
Innerchr8:87228243..87271776hg19UCSC Ensembl
Innerchr8:87297359..87340892hg18UCSC Ensembl
Cytoband8q21.3
Allele length
AssemblyAllele length
hg3843534
hg1943534
hg1843534
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2762757
Supporting Variants
SamplesRW_0513
Known GenesSLC7A13
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)essv7017049
Frequency
Sample Size1109
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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