A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2668009



Internal ID9587428
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:43065499..43066511hg38UCSC Ensembl
chr8:42920642..42921654hg19UCSC Ensembl
Cytoband8p11.21
Allele length
AssemblyAllele length
hg381013
hg191013
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5751534, essv6488682, essv5522260, essv6130200, essv5561658, essv6570348, essv5854957, essv5887499, essv5411704, essv6344666, essv6173537, essv5706590, essv6179671, essv6221148, essv5978430, essv6088866
SamplesNA20346, NA18510, HG01488, NA19916, NA19904, NA19235, NA18908, NA19985, NA19921, NA18910, NA19257, NA18858, HG01137, NA19129, NA20322, HG01191
Known GenesFNTA
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2668009
Frequency
Sample Size1151
Observed Gain0
Observed Loss16
Observed Complex0
Frequencyn/a


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