A curated catalogue of human genomic structural variation




Variant Details

Variant: essv9750479



Internal ID18724725
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr14:70971127..70971393hg38UCSC Ensembl
Outerchr14:70971087..70971472hg38UCSC Ensembl
Innerchr14:71437844..71438110hg19UCSC Ensembl
Outerchr14:71437804..71438189hg19UCSC Ensembl
Cytoband14q24.2
Allele length
AssemblyAllele length
hg38386
hg19386
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3551732
Supporting Variants
Samples
Known GenesPCNX
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceBoomsma_et_al_2014
Pubmed ID23714750
Accession Number(s)essv9750479
Frequency
Sample Size767
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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