A curated catalogue of human genomic structural variation




Variant Details

Variant: esv996423



Internal ID6732367
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:79739782..79740141hg38UCSC Ensembl
chr18:77499782..77500141hg19UCSC Ensembl
chr18:75600770..75601129hg18UCSC Ensembl
Cytoband18q23
Allele length
AssemblyAllele length
hg38360
hg19360
hg18360
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv3570606
SamplesHuRef
Known GenesCTDP1
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferencePang_et_al_2010
Pubmed ID20482838
Accession Number(s)esv996423
Frequency
Sample Size3
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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