A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2663143



Internal ID9582562
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr9:69536167..69538113hg38UCSC Ensembl
chr9:72151083..72153029hg19UCSC Ensembl
Cytoband9q21.11
Allele length
AssemblyAllele length
hg381947
hg191947
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5962740, essv5937038, essv6381317, essv6174396, essv5871128, essv5403793, essv6069242, essv5569860, essv6048013, essv5604295, essv5524408
SamplesNA20507, NA20798, HG00158, HG00106, HG01048, NA12777, NA20525, NA12249, NA20527, HG00339, NA11892
Known GenesAPBA1
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2663143
Frequency
Sample Size1151
Observed Gain0
Observed Loss11
Observed Complex0
Frequencyn/a


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