A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3551759



Internal ID18752835
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr14:73060150..73064609hg38UCSC Ensembl
Outerchr14:73059793..73065299hg38UCSC Ensembl
Innerchr14:73526858..73531317hg19UCSC Ensembl
Outerchr14:73526501..73532007hg19UCSC Ensembl
Cytoband14q24.2
Allele length
AssemblyAllele length
hg385507
hg195507
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv133e215
Supporting Variantsessv9750506
Samples
Known GenesRBM25
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceBoomsma_et_al_2014
Pubmed ID23714750
Accession Number(s)esv3551759
Frequency
Sample Size767
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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