A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3547544



Internal ID18401934
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:225815119..225815434hg38UCSC Ensembl
Outerchr1:225815031..225815510hg38UCSC Ensembl
Innerchr1:226002821..226003136hg19UCSC Ensembl
Outerchr1:226002733..226003212hg19UCSC Ensembl
Cytoband1q42.12
Allele length
AssemblyAllele length
hg38480
hg19480
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9746291
Samples
Known GenesEPHX1
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceBoomsma_et_al_2014
Pubmed ID23714750
Accession Number(s)esv3547544
Frequency
Sample Size767
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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