A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2674702



Internal ID9594121
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:43178579..43181236hg38UCSC Ensembl
chr8:43033722..43036379hg19UCSC Ensembl
Cytoband8p11.21
Allele length
AssemblyAllele length
hg382658
hg192658
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5397684, essv6117794, essv6074261, essv5673387, essv6182365, essv5945658, essv6188294, essv6210211, essv5703752
SamplesNA18933, NA20346, NA18516, NA19257, NA19713, NA19704, NA18858, NA19921, NA18908
Known GenesHGSNAT
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2674702
Frequency
Sample Size1151
Observed Gain0
Observed Loss9
Observed Complex0
Frequencyn/a


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