A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3543484



Internal ID18397874
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:51454963..51455128hg38UCSC Ensembl
Outerchr8:51454939..51455150hg38UCSC Ensembl
Innerchr8:52367523..52367688hg19UCSC Ensembl
Outerchr8:52367499..52367710hg19UCSC Ensembl
Cytoband8q11.22
Allele length
AssemblyAllele length
hg38212
hg19212
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9742231
Samples
Known GenesPXDNL
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceBoomsma_et_al_2014
Pubmed ID23714750
Accession Number(s)esv3543484
Frequency
Sample Size767
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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