A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6992022



Internal ID10358257
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:3720000..5043369hg38UCSC Ensembl
Innerchr8:3577522..4900891hg19UCSC Ensembl
Innerchr8:3564930..4888299hg18UCSC Ensembl
Cytoband8p23.2
Allele length
AssemblyAllele length
hg381323370
hg191323370
hg181323370
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2764097
Supporting Variants
SamplesSW_0641
Known GenesCSMD1
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)essv6992022
Frequency
Sample Size1109
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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