A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3543485



Internal ID18397875
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:51533481..51535743hg38UCSC Ensembl
Outerchr8:51533430..51535754hg38UCSC Ensembl
Innerchr8:52446041..52448303hg19UCSC Ensembl
Outerchr8:52445990..52448314hg19UCSC Ensembl
Cytoband8q11.22
Allele length
AssemblyAllele length
hg382325
hg192325
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9742232
Samples
Known GenesPXDNL
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceBoomsma_et_al_2014
Pubmed ID23714750
Accession Number(s)esv3543485
Frequency
Sample Size767
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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