A curated catalogue of human genomic structural variation




Variant Details

Variant: essv9750410



Internal ID18724656
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr14:65060430..65060678hg38UCSC Ensembl
Outerchr14:65060409..65060722hg38UCSC Ensembl
Innerchr14:65527148..65527396hg19UCSC Ensembl
Outerchr14:65527127..65527440hg19UCSC Ensembl
Cytoband14q23.3
Allele length
AssemblyAllele length
hg38314
hg19314
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3551663
Supporting Variants
Samples
Known GenesCHURC1-FNTB, FNTB, MAX
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceBoomsma_et_al_2014
Pubmed ID23714750
Accession Number(s)essv9750410
Frequency
Sample Size767
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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