A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3547666



Internal ID18402056
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:226978599..226978893hg38UCSC Ensembl
Outerchr1:226978521..226978942hg38UCSC Ensembl
Innerchr1:227166300..227166594hg19UCSC Ensembl
Outerchr1:227166222..227166643hg19UCSC Ensembl
Cytoband1q42.13
Allele length
AssemblyAllele length
hg38422
hg19422
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9746413
Samples
Known GenesADCK3
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceBoomsma_et_al_2014
Pubmed ID23714750
Accession Number(s)esv3547666
Frequency
Sample Size767
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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