A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3544112



Internal ID18398502
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:120475350..120476571hg38UCSC Ensembl
Outerchr8:120475021..120476712hg38UCSC Ensembl
Innerchr8:121487590..121488811hg19UCSC Ensembl
Outerchr8:121487261..121488952hg19UCSC Ensembl
Cytoband8q24.12
Allele length
AssemblyAllele length
hg381692
hg191692
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9742859
Samples
Known GenesMTBP
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceBoomsma_et_al_2014
Pubmed ID23714750
Accession Number(s)esv3544112
Frequency
Sample Size767
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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