A curated catalogue of human genomic structural variation




Variant Details

Variant: essv9750509



Internal ID18378069
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr14:73201551..73202719hg38UCSC Ensembl
Outerchr14:73201333..73202762hg38UCSC Ensembl
Innerchr14:73668259..73669427hg19UCSC Ensembl
Outerchr14:73668041..73669470hg19UCSC Ensembl
Cytoband14q24.2
Allele length
AssemblyAllele length
hg381430
hg191430
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3551762
Supporting Variants
Samples
Known GenesPSEN1
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceBoomsma_et_al_2014
Pubmed ID23714750
Accession Number(s)essv9750509
Frequency
Sample Size767
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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