A curated catalogue of human genomic structural variation




Variant Details

Variant: essv9759140



Internal ID18386700
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:32078900..32082899hg38UCSC Ensembl
Outerchr1:32078400..32083399hg38UCSC Ensembl
Innerchr1:32544501..32548500hg19UCSC Ensembl
Outerchr1:32544001..32549000hg19UCSC Ensembl
Cytoband1p35.1
Allele length
AssemblyAllele length
hg385000
hg195000
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3560393
Supporting Variants
Samples
Known GenesTMEM39B
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceBoomsma_et_al_2014
Pubmed ID23714750
Accession Number(s)essv9759140
Frequency
Sample Size767
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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