A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3555049



Internal ID18409439
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr18:10462423..10462630hg38UCSC Ensembl
Outerchr18:10462392..10462678hg38UCSC Ensembl
Innerchr18:10462420..10462627hg19UCSC Ensembl
Outerchr18:10462389..10462675hg19UCSC Ensembl
Cytoband18p11.22
Allele length
AssemblyAllele length
hg38287
hg19287
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv197e215
Supporting Variantsessv9753796
Samples
Known GenesAPCDD1
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceBoomsma_et_al_2014
Pubmed ID23714750
Accession Number(s)esv3555049
Frequency
Sample Size767
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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