A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6992816



Internal ID10026870
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:17530064..17555646hg38UCSC Ensembl
Innerchr8:17387573..17413155hg19UCSC Ensembl
Innerchr8:17431953..17457447hg18UCSC Ensembl
Cytoband8p22
Allele length
AssemblyAllele length
hg3825583
hg1925583
hg1825495
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2764066
Supporting Variants
SamplesSW_1506
Known GenesSLC7A2
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)essv6992816
Frequency
Sample Size1109
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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