A curated catalogue of human genomic structural variation




Variant Details

Variant: essv9750284



Internal ID18724530
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr14:50073500..50074885hg38UCSC Ensembl
Outerchr14:50073338..50075144hg38UCSC Ensembl
Innerchr14:50540218..50541603hg19UCSC Ensembl
Outerchr14:50540056..50541862hg19UCSC Ensembl
Cytoband14q21.3
Allele length
AssemblyAllele length
hg381807
hg191807
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3551537
Supporting Variants
Samples
Known Genes
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceBoomsma_et_al_2014
Pubmed ID23714750
Accession Number(s)essv9750284
Frequency
Sample Size767
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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