A curated catalogue of human genomic structural variation




Variant Details

Variant: essv9745758



Internal ID18373318
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:220115582..220117575hg38UCSC Ensembl
Outerchr1:220115267..220117994hg38UCSC Ensembl
Innerchr1:220288924..220290917hg19UCSC Ensembl
Outerchr1:220288609..220291336hg19UCSC Ensembl
Cytoband1q41
Allele length
AssemblyAllele length
hg382728
hg192728
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3547011
Supporting Variants
Samples
Known GenesIARS2, MIR215, RNU5F-1
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceBoomsma_et_al_2014
Pubmed ID23714750
Accession Number(s)essv9745758
Frequency
Sample Size767
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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