A curated catalogue of human genomic structural variation




Variant Details

Variant: essv9750519



Internal ID18378079
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr14:74290661..74290767hg38UCSC Ensembl
Outerchr14:74290660..74290768hg38UCSC Ensembl
Innerchr14:74757364..74757470hg19UCSC Ensembl
Outerchr14:74757363..74757471hg19UCSC Ensembl
Cytoband14q24.3
Allele length
AssemblyAllele length
hg38109
hg19109
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3551772
Supporting Variants
Samples
Known GenesABCD4
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceBoomsma_et_al_2014
Pubmed ID23714750
Accession Number(s)essv9750519
Frequency
Sample Size767
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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