A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6992261



Internal ID10013088
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:7336299..7380497hg38UCSC Ensembl
Innerchr8:7193821..7238019hg19UCSC Ensembl
Innerchr8:7181231..7225429hg18UCSC Ensembl
Cytoband8p23.1
Allele length
AssemblyAllele length
hg3844199
hg1944199
hg1844199
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2764098
Supporting Variants
SamplesSW_0800
Known GenesFAM66B, USP17L4, ZNF705G
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)essv6992261
Frequency
Sample Size1109
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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