A curated catalogue of human genomic structural variation




Variant Details

Variant: esv988467



Internal ID6724438
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr5:179186735..179195246hg38UCSC Ensembl
Outerchr5:178613736..178622247hg19UCSC Ensembl
Outerchr5:178546342..178554853hg18UCSC Ensembl
Cytoband5q35.3
Allele length
AssemblyAllele length
hg388512
hg198512
hg188512
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv3564179
SamplesHuRef
Known GenesADAMTS2
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferencePang_et_al_2010
Pubmed ID20482838
Accession Number(s)esv988467
Frequency
Sample Size3
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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