A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6993263



Internal ID10358019
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:95842134..95844829hg38UCSC Ensembl
Innerchr8:96854362..96857057hg19UCSC Ensembl
Innerchr8:96923538..96926233hg18UCSC Ensembl
Cytoband8q22.1
Allele length
AssemblyAllele length
hg382696
hg192696
hg182696
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2764077
Supporting Variants
SamplesSW_0634
Known Genes
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)essv6993263
Frequency
Sample Size1109
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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