A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3567692



Internal ID18768768
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:112292484..112295043hg38UCSC Ensembl
Outerchr1:112292261..112295134hg38UCSC Ensembl
Innerchr1:112835106..112837665hg19UCSC Ensembl
Outerchr1:112834883..112837756hg19UCSC Ensembl
Cytoband1p13.2
Allele length
AssemblyAllele length
hg382874
hg192874
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9766439
Samples
Known Genes
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceBoomsma_et_al_2014
Pubmed ID23714750
Accession Number(s)esv3567692
Frequency
Sample Size767
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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