A curated catalogue of human genomic structural variation




Variant Details

Variant: esv995458



Internal ID6731408
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr4:76172611..76181025hg38UCSC Ensembl
Outerchr4:77093764..77102178hg19UCSC Ensembl
Outerchr4:77312788..77321202hg18UCSC Ensembl
Cytoband4q21.1
Allele length
AssemblyAllele length
hg388415
hg198415
hg188415
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv3564319
SamplesHuRef
Known GenesSCARB2
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferencePang_et_al_2010
Pubmed ID20482838
Accession Number(s)esv995458
Frequency
Sample Size3
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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