A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2673331



Internal ID9592750
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:117920700..117923808hg38UCSC Ensembl
Outerchr6:117920543..117923961hg38UCSC Ensembl
Innerchr6:118241863..118244971hg19UCSC Ensembl
Outerchr6:118241706..118245124hg19UCSC Ensembl
Cytoband6q22.1
Allele length
AssemblyAllele length
hg383419
hg193419
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6452240
SamplesNA19003
Known GenesSLC35F1
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2673331
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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