A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2658649



Internal ID9578068
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:141994626..141994873hg38UCSC Ensembl
chr8:143075987..143076234hg19UCSC Ensembl
Cytoband8q24.3
Allele length
AssemblyAllele length
hg38248
hg19248
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6173549, essv6569102, essv5412622, essv6078081, essv6561063, essv6203626, essv5849288, essv5925761, essv6499780, essv5841066, essv6481217, essv6278248, essv6174378, essv6414062, essv6293768, essv5477306, essv6474010, essv5996850, essv5614104, essv5602003
SamplesNA18502, NA19704, NA19355, NA19190, NA18870, NA19198, HG01083, NA19138, NA20287, NA19137, NA19114, NA18858, NA19321, NA19108, NA19324, NA19093, NA19129, NA19755, NA20322, NA19463
Known Genes
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2658649
Frequency
Sample Size1151
Observed Gain0
Observed Loss20
Observed Complex0
Frequencyn/a


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