A curated catalogue of human genomic structural variation




Variant Details

Variant: essv9753989



Internal ID18381549
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr18:37338005..37338301hg38UCSC Ensembl
Outerchr18:37337987..37338356hg38UCSC Ensembl
Innerchr18:34917968..34918264hg19UCSC Ensembl
Outerchr18:34917950..34918319hg19UCSC Ensembl
Cytoband18q12.2
Allele length
AssemblyAllele length
hg38370
hg19370
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3555242
Supporting Variants
Samples
Known GenesCELF4
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceBoomsma_et_al_2014
Pubmed ID23714750
Accession Number(s)essv9753989
Frequency
Sample Size767
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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