A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3543486



Internal ID18397876
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:51607638..51608613hg38UCSC Ensembl
Outerchr8:51607591..51608836hg38UCSC Ensembl
Innerchr8:52520198..52521173hg19UCSC Ensembl
Outerchr8:52520151..52521396hg19UCSC Ensembl
Cytoband8q11.22
Allele length
AssemblyAllele length
hg381246
hg191246
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9742233
Samples
Known GenesPXDNL
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceBoomsma_et_al_2014
Pubmed ID23714750
Accession Number(s)esv3543486
Frequency
Sample Size767
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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