A curated catalogue of human genomic structural variation




Variant Details

Variant: essv9746913



Internal ID18374473
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:230315348..230315456hg38UCSC Ensembl
chr1:230451094..230451202hg19UCSC Ensembl
Cytoband1q42.13
Allele length
AssemblyAllele length
hg38109
hg19109
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3548166
Supporting Variants
Samples
Known Genes
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceBoomsma_et_al_2014
Pubmed ID23714750
Accession Number(s)essv9746913
Frequency
Sample Size767
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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