A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3565137



Internal ID18419527
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:83922683..83923258hg38UCSC Ensembl
Outerchr1:83922584..83923349hg38UCSC Ensembl
Innerchr1:84388366..84388941hg19UCSC Ensembl
Outerchr1:84388267..84389032hg19UCSC Ensembl
Cytoband1p31.1
Allele length
AssemblyAllele length
hg38766
hg19766
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9763884
Samples
Known GenesTTLL7
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceBoomsma_et_al_2014
Pubmed ID23714750
Accession Number(s)esv3565137
Frequency
Sample Size767
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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