A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3551741



Internal ID18752817
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr14:71674552..71674848hg38UCSC Ensembl
Outerchr14:71674487..71674873hg38UCSC Ensembl
Innerchr14:72141269..72141565hg19UCSC Ensembl
Outerchr14:72141204..72141590hg19UCSC Ensembl
Cytoband14q24.2
Allele length
AssemblyAllele length
hg38387
hg19387
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9750488
Samples
Known GenesSIPA1L1
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceBoomsma_et_al_2014
Pubmed ID23714750
Accession Number(s)esv3551741
Frequency
Sample Size767
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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