A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2668232



Internal ID9934337
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:158997850..158998678hg38UCSC Ensembl
chr6:159418882..159419710hg19UCSC Ensembl
Cytoband6q25.3
Allele length
AssemblyAllele length
hg38829
hg19829
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6182096, essv6122955, essv5710527, essv6345578, essv6280617, essv6397733, essv5589701, essv5720914, essv5499782, essv6012933, essv5519890
SamplesNA19664, HG01374, HG01350, NA19678, NA11992, HG01353, NA12718, NA19675, HG00353, HG00136, NA19726
Known GenesRSPH3
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2668232
Frequency
Sample Size1151
Observed Gain0
Observed Loss11
Observed Complex0
Frequencyn/a


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