A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2658482



Internal ID9924587
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:82800764..82801993hg38UCSC Ensembl
chr6:83510481..83511710hg19UCSC Ensembl
Cytoband6q14.1
Allele length
AssemblyAllele length
hg381230
hg191230
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5474778, essv5938936, essv5850077, essv6372300, essv6375905, essv5506758, essv5918627, essv6192247, essv6415465
SamplesNA12842, HG00247, HG01198, NA18557, HG00246, NA20530, HG01489, HG00174, HG00310
Known Genes
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2658482
Frequency
Sample Size1151
Observed Gain0
Observed Loss9
Observed Complex0
Frequencyn/a


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