A curated catalogue of human genomic structural variation




Variant Details

Variant: essv9746513



Internal ID18720759
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 StatusS
Merged Variantsesv3547766
Supporting Variants
Samples
Known GenesZNF678
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceBoomsma_et_al_2014
Pubmed ID23714750
Accession Number(s)essv9746513
Frequency
Sample Size767
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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