A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3543251



Internal ID18397641
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:25346582..25346784hg38UCSC Ensembl
Outerchr8:25346535..25346829hg38UCSC Ensembl
Innerchr8:25204098..25204300hg19UCSC Ensembl
Outerchr8:25204051..25204345hg19UCSC Ensembl
Cytoband8p21.2
Allele length
AssemblyAllele length
hg38295
hg19295
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9741998
Samples
Known GenesDOCK5
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceBoomsma_et_al_2014
Pubmed ID23714750
Accession Number(s)esv3543251
Frequency
Sample Size767
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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