A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3543249



Internal ID18397639
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:25209498..25212666hg38UCSC Ensembl
Outerchr8:25208974..25213221hg38UCSC Ensembl
Innerchr8:25067014..25070182hg19UCSC Ensembl
Outerchr8:25066490..25070737hg19UCSC Ensembl
Cytoband8p21.2
Allele length
AssemblyAllele length
hg384248
hg194248
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9741996
Samples
Known GenesDOCK5
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceBoomsma_et_al_2014
Pubmed ID23714750
Accession Number(s)esv3543249
Frequency
Sample Size767
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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