A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3543180



Internal ID18397570
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:19676139..19676726hg38UCSC Ensembl
Outerchr8:19676128..19676752hg38UCSC Ensembl
Innerchr8:19533650..19534237hg19UCSC Ensembl
Outerchr8:19533639..19534263hg19UCSC Ensembl
Cytoband8p21.3
Allele length
AssemblyAllele length
hg38625
hg19625
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9741927
Samples
Known GenesCSGALNACT1
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceBoomsma_et_al_2014
Pubmed ID23714750
Accession Number(s)esv3543180
Frequency
Sample Size767
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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