A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3543281



Internal ID18397671
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:28896388..28896702hg38UCSC Ensembl
Outerchr8:28896330..28896749hg38UCSC Ensembl
Innerchr8:28753905..28754219hg19UCSC Ensembl
Outerchr8:28753847..28754266hg19UCSC Ensembl
Cytoband8p21.1
Allele length
AssemblyAllele length
hg38420
hg19420
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9742028
Samples
Known GenesHMBOX1
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceBoomsma_et_al_2014
Pubmed ID23714750
Accession Number(s)esv3543281
Frequency
Sample Size767
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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