A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3549777



Internal ID18404167
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:243673503..243674416hg38UCSC Ensembl
Outerchr1:243673498..243674430hg38UCSC Ensembl
Innerchr1:243836805..243837718hg19UCSC Ensembl
Outerchr1:243836800..243837732hg19UCSC Ensembl
Cytoband1q44
Allele length
AssemblyAllele length
hg38933
hg19933
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9748524
Samples
Known GenesAKT3
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceBoomsma_et_al_2014
Pubmed ID23714750
Accession Number(s)esv3549777
Frequency
Sample Size767
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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