A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2671910



Internal ID9591329
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:28879250..28880147hg38UCSC Ensembl
chr8:28736767..28737664hg19UCSC Ensembl
Cytoband8p21.1
Allele length
AssemblyAllele length
hg38898
hg19898
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6035774, essv5879990, essv6170139, essv5930884
SamplesHG00328, HG01082, NA19789, HG00641
Known GenesINTS9
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2671910
Frequency
Sample Size1151
Observed Gain0
Observed Loss4
Observed Complex0
Frequencyn/a


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