A curated catalogue of human genomic structural variation




Variant Details

Variant: essv3565576



Internal ID6690272
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr8:120421449..120429849hg38UCSC Ensembl
Outerchr8:121433689..121442089hg19UCSC Ensembl
Outerchr8:121502870..121511270hg18UCSC Ensembl
Cytoband8q24.12
Allele length
AssemblyAllele length
hg388401
hg198401
hg188401
Variant TypeCNV deletion
Copy Number
Allele State
Allele OriginNot tested
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv996748
Supporting Variants
SamplesHuRef
Known GenesMRPL13
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferencePang_et_al_2010
Pubmed ID20482838
Accession Number(s)essv3565576
Frequency
Sample Size3
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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