A curated catalogue of human genomic structural variation




Variant Details

Variant: essv9738692



Internal ID18712880
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:116086614..116092379hg38UCSC Ensembl
Outerchr1:116085618..116092749hg38UCSC Ensembl
Innerchr1:116629235..116635000hg19UCSC Ensembl
Outerchr1:116628239..116635370hg19UCSC Ensembl
Cytoband1p13.1
Allele length
AssemblyAllele length
hg387132
hg197132
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3539945
Supporting Variants
Samples
Known Genes
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceBoomsma_et_al_2014
Pubmed ID23714750
Accession Number(s)essv9738692
Frequency
Sample Size767
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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