A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3551539



Internal ID18752615
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr14:50251352..50260277hg38UCSC Ensembl
Outerchr14:50251096..50260295hg38UCSC Ensembl
Innerchr14:50718070..50726995hg19UCSC Ensembl
Outerchr14:50717814..50727013hg19UCSC Ensembl
Cytoband14q21.3
Allele length
AssemblyAllele length
hg389200
hg199200
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9750286
Samples
Known GenesL2HGDH
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceBoomsma_et_al_2014
Pubmed ID23714750
Accession Number(s)esv3551539
Frequency
Sample Size767
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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