A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2666500



Internal ID9585919
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr10:44841262..44841902hg38UCSC Ensembl
chr10:45336710..45337350hg19UCSC Ensembl
Cytoband10q11.21
Allele length
AssemblyAllele length
hg38641
hg19641
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6214687, essv5627164, essv5710136, essv5468953
SamplesHG01101, NA18505, NA06986, NA19909
Known GenesTMEM72-AS1
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2666500
Frequency
Sample Size1151
Observed Gain0
Observed Loss4
Observed Complex0
Frequencyn/a


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