A curated catalogue of human genomic structural variation




Variant Details

Variant: essv9748469



Internal ID18376029
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:243492441..243492727hg38UCSC Ensembl
Outerchr1:243492421..243492749hg38UCSC Ensembl
Innerchr1:243655743..243656029hg19UCSC Ensembl
Outerchr1:243655723..243656051hg19UCSC Ensembl
Cytoband1q43
Allele length
AssemblyAllele length
hg38329
hg19329
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3549722
Supporting Variants
Samples
Known GenesAKT3, SDCCAG8
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceBoomsma_et_al_2014
Pubmed ID23714750
Accession Number(s)essv9748469
Frequency
Sample Size767
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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