A curated catalogue of human genomic structural variation




Variant Details

Variant: essv9750307



Internal ID18724553
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr14:52127968..52128260hg38UCSC Ensembl
Outerchr14:52127899..52128298hg38UCSC Ensembl
Innerchr14:52594686..52594978hg19UCSC Ensembl
Outerchr14:52594617..52595016hg19UCSC Ensembl
Cytoband14q22.1
Allele length
AssemblyAllele length
hg38400
hg19400
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3551560
Supporting Variants
Samples
Known Genes
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceBoomsma_et_al_2014
Pubmed ID23714750
Accession Number(s)essv9750307
Frequency
Sample Size767
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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