A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2660481



Internal ID9926586
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:131338797..131344111hg38UCSC Ensembl
chr6:131659937..131665251hg19UCSC Ensembl
Cytoband6q23.2
Allele length
AssemblyAllele length
hg385315
hg195315
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5778309, essv6138823, essv6538619, essv5499474
SamplesNA19393, NA19347, NA19391, NA19236
Known Genes
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2660481
Frequency
Sample Size1151
Observed Gain0
Observed Loss4
Observed Complex0
Frequencyn/a


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