A curated catalogue of human genomic structural variation




Variant Details

Variant: esv988512



Internal ID6724483
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:10462410..10462657hg38UCSC Ensembl
chr18:10462407..10462654hg19UCSC Ensembl
chr18:10452407..10452654hg18UCSC Ensembl
Cytoband18p11.22
Allele length
AssemblyAllele length
hg38248
hg19248
hg18248
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv3576826
SamplesHuRef
Known GenesAPCDD1
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferencePang_et_al_2010
Pubmed ID20482838
Accession Number(s)esv988512
Frequency
Sample Size3
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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