A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2659482



Internal ID9925587
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:75532543..75556739hg38UCSC Ensembl
Outerchr6:75532386..75556905hg38UCSC Ensembl
Innerchr6:76242259..76266455hg19UCSC Ensembl
Outerchr6:76242102..76266621hg19UCSC Ensembl
Cytoband6q14.1
Allele length
AssemblyAllele length
hg3824520
hg1924520
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6009618, essv5535806, essv5768753, essv6079151, essv5834630
SamplesNA11830, HG00179, NA20819, NA20533, HG00186
Known Genes
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2659482
Frequency
Sample Size1151
Observed Gain0
Observed Loss5
Observed Complex0
Frequencyn/a


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