A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3555048



Internal ID18409438
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr18:10462429..10462586hg38UCSC Ensembl
Outerchr18:10462375..10462633hg38UCSC Ensembl
Innerchr18:10462426..10462583hg19UCSC Ensembl
Outerchr18:10462372..10462630hg19UCSC Ensembl
Cytoband18p11.22
Allele length
AssemblyAllele length
hg38259
hg19259
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv197e215
Supporting Variantsessv9753795
Samples
Known GenesAPCDD1
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceBoomsma_et_al_2014
Pubmed ID23714750
Accession Number(s)esv3555048
Frequency
Sample Size767
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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