A curated catalogue of human genomic structural variation




Variant Details

Variant: essv7016842



Internal ID10334251
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:64334427..64344946hg38UCSC Ensembl
Innerchr8:65246984..65257503hg19UCSC Ensembl
Innerchr8:65409538..65420057hg18UCSC Ensembl
Cytoband8q12.3
Allele length
AssemblyAllele length
hg3810520
hg1910520
hg1810520
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2761224
Supporting Variants
SamplesRW_0070
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)essv7016842
Frequency
Sample Size1109
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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