A curated catalogue of human genomic structural variation




Variant Details

Variant: essv9747934



Internal ID18375494
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:49687288..49687372hg38UCSC Ensembl
chr12:50081071..50081155hg19UCSC Ensembl
Cytoband12q13.12
Allele length
AssemblyAllele length
hg3885
hg1985
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3549187
Supporting Variants
Samples
Known GenesFMNL3
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceBoomsma_et_al_2014
Pubmed ID23714750
Accession Number(s)essv9747934
Frequency
Sample Size767
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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