A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3543624



Internal ID18398014
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:69493974..69494025hg38UCSC Ensembl
chr8:70406209..70406260hg19UCSC Ensembl
Cytoband8q13.2
Allele length
AssemblyAllele length
hg3852
hg1952
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9742371
Samples
Known GenesSULF1
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceBoomsma_et_al_2014
Pubmed ID23714750
Accession Number(s)esv3543624
Frequency
Sample Size767
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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