A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2666698



Internal ID2899785
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr10:52766742..52769474hg38UCSC Ensembl
chr10:54526502..54529234hg19UCSC Ensembl
Cytoband10q21.1
Allele length
AssemblyAllele length
hg382733
hg192733
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6597983, essv6454024, essv6420694, essv5671062, essv6534701
SamplesNA18508, NA19917, NA19213, NA19247, NA18504
Known GenesMBL2
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2666698
Frequency
Sample Size1151
Observed Gain0
Observed Loss5
Observed Complex0
Frequencyn/a


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