A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6452240



Internal ID9429643
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 Flag1
Merged StatusS
Merged Variantsesv2673331
Supporting Variants
SamplesNA19003
Known GenesSLC35F1
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)essv6452240
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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