A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3556472



Internal ID18757548
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr19:46120142..46125052hg38UCSC Ensembl
Outerchr19:46119244..46125680hg38UCSC Ensembl
Innerchr19:46623399..46628309hg19UCSC Ensembl
Outerchr19:46622501..46628937hg19UCSC Ensembl
Cytoband19q13.32
Allele length
AssemblyAllele length
hg386437
hg196437
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv225e215
Supporting Variantsessv9755219
Samples
Known GenesIGFL3
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceBoomsma_et_al_2014
Pubmed ID23714750
Accession Number(s)esv3556472
Frequency
Sample Size767
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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