A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3540911



Internal ID18741987
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:168472249..168476836hg38UCSC Ensembl
Outerchr6:168471720..168476951hg38UCSC Ensembl
Innerchr6:168872929..168877516hg19UCSC Ensembl
Outerchr6:168872400..168877631hg19UCSC Ensembl
Cytoband6q27
Allele length
AssemblyAllele length
hg385232
hg195232
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9739658
Samples
Known GenesSMOC2
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceBoomsma_et_al_2014
Pubmed ID23714750
Accession Number(s)esv3540911
Frequency
Sample Size767
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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