A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3548899



Internal ID18403289
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:15456602..15475005hg38UCSC Ensembl
Outerchr1:15454506..15475973hg38UCSC Ensembl
Innerchr1:15783097..15801500hg19UCSC Ensembl
Outerchr1:15781001..15802468hg19UCSC Ensembl
Cytoband1p36.21
Allele length
AssemblyAllele length
hg3821468
hg1921468
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9747646
Samples
Known GenesCELA2A
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceBoomsma_et_al_2014
Pubmed ID23714750
Accession Number(s)esv3548899
Frequency
Sample Size767
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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