A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3566570



Internal ID18420960
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:101230009..101231938hg38UCSC Ensembl
Outerchr1:101229728..101232291hg38UCSC Ensembl
Innerchr1:101695565..101697494hg19UCSC Ensembl
Outerchr1:101695284..101697847hg19UCSC Ensembl
Cytoband1p21.2
Allele length
AssemblyAllele length
hg382564
hg192564
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9765317
Samples
Known Genes
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceBoomsma_et_al_2014
Pubmed ID23714750
Accession Number(s)esv3566570
Frequency
Sample Size767
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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