A curated catalogue of human genomic structural variation




Variant Details

Variant: essv9750122



Internal ID18724368
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr14:35138295..35145794hg38UCSC Ensembl
Outerchr14:35136295..35147294hg38UCSC Ensembl
Innerchr14:35607501..35615000hg19UCSC Ensembl
Outerchr14:35605501..35616500hg19UCSC Ensembl
Cytoband14q13.2
Allele length
AssemblyAllele length
hg3811000
hg1911000
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3551375
Supporting Variants
Samples
Known GenesKIAA0391
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceBoomsma_et_al_2014
Pubmed ID23714750
Accession Number(s)essv9750122
Frequency
Sample Size767
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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