A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2670273



Internal ID9936378
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:143548242..143551310hg38UCSC Ensembl
chr6:143869379..143872447hg19UCSC Ensembl
Cytoband6q24.2
Allele length
AssemblyAllele length
hg383069
hg193069
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6322811, essv5559095, essv5816792, essv5614230, essv5529902
SamplesNA11933, HG00188, HG00152, HG00124, NA07000
Known Genes
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2670273
Frequency
Sample Size1151
Observed Gain0
Observed Loss5
Observed Complex0
Frequencyn/a


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