A curated catalogue of human genomic structural variation




Variant Details

Variant: essv9759096



Internal ID18386656
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:31803349..31803411hg38UCSC Ensembl
chr1:32268950..32269012hg19UCSC Ensembl
Cytoband1p35.2
Allele length
AssemblyAllele length
hg3863
hg1963
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3560349
Supporting Variants
Samples
Known GenesSPOCD1
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceBoomsma_et_al_2014
Pubmed ID23714750
Accession Number(s)essv9759096
Frequency
Sample Size767
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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