A curated catalogue of human genomic structural variation




Variant Details

Variant: essv9738714



Internal ID18712902
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:116459547..116459670hg38UCSC Ensembl
Outerchr1:116459540..116459672hg38UCSC Ensembl
Innerchr1:117002169..117002292hg19UCSC Ensembl
Outerchr1:117002162..117002294hg19UCSC Ensembl
Cytoband1p13.1
Allele length
AssemblyAllele length
hg38133
hg19133
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3539967
Supporting Variants
Samples
Known Genes
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceBoomsma_et_al_2014
Pubmed ID23714750
Accession Number(s)essv9738714
Frequency
Sample Size767
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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