A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3547766



Internal ID18748842
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:227589484..227591335hg38UCSC Ensembl
Outerchr1:227589041..227591362hg38UCSC Ensembl
Innerchr1:227777185..227779036hg19UCSC Ensembl
Outerchr1:227776742..227779063hg19UCSC Ensembl
Cytoband1q42.13
Allele length
AssemblyAllele length
hg382322
hg192322
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9746513
Samples
Known GenesZNF678
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceBoomsma_et_al_2014
Pubmed ID23714750
Accession Number(s)esv3547766
Frequency
Sample Size767
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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