A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2678517



Internal ID9944622
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:166481643..166482059hg38UCSC Ensembl
chr6:166895131..166895547hg19UCSC Ensembl
Cytoband6q27
Allele length
AssemblyAllele length
hg38417
hg19417
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6148929, essv5596197, essv5695951, essv5850971, essv6435329, essv5792687, essv6054786, essv6542490, essv6338261, essv6184756, essv5931159, essv5550220, essv6268825, essv5936041, essv6567891, essv6376769, essv6552029, essv6247559, essv5696558, essv5403869, essv5865084, essv6332581, essv6142652
SamplesNA19704, NA19057, NA18510, NA18940, HG00122, NA18982, NA20291, NA19404, NA19451, HG00543, NA19082, NA19064, NA18907, HG00404, NA18499, HG00152, NA19375, NA19010, NA19085, NA12347, HG00329, HG00698, NA19074
Known GenesRPS6KA2
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2678517
Frequency
Sample Size1151
Observed Gain0
Observed Loss23
Observed Complex0
Frequencyn/a


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