A curated catalogue of human genomic structural variation




Variant Details

Variant: essv9738504



Internal ID18712692
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:54851945..54852086hg38UCSC Ensembl
chr6:54716743..54716884hg19UCSC Ensembl
Cytoband6p12.1
Allele length
AssemblyAllele length
hg38142
hg19142
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3539757
Supporting Variants
Samples
Known GenesFAM83B
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceBoomsma_et_al_2014
Pubmed ID23714750
Accession Number(s)essv9738504
Frequency
Sample Size767
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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