A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2723358



Internal ID10306994
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr21:33876061..33876542hg38UCSC Ensembl
Outerchr21:35248365..35248846hg19UCSC Ensembl
Cytoband21q22.11
Allele length
AssemblyAllele length
hg38482
hg19482
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6733400, essv6843199, essv6909959, essv6832481, essv6853085, essv6729519, essv6776830, essv6875997, essv6898536, essv6906031, essv6769429, essv6859061, essv6696915, essv6810283, essv6863837, essv6780745, essv6839859, essv6675084, essv6721890, essv6797334, essv6883194, essv6874634, essv6813098, essv6967780, essv6961347, essv6801528, essv6689184, essv6880363, essv6836066, essv6783776, essv6954582, essv6828906, essv6895762, essv6941670, essv6692659
SamplesSSM036, SSM008, SSM083, SSM071, SSM027, SSM075, SSM046, SSM011, SSM064, SSM087, SSM013, SSM093, SSM088, SSM047, SSM026, SSM035, SSM094, SSM031, SSM067, SSM044, SSM014, SSM086, SSM066, SSM081, SSM072, SSM082, SSM080, SSM037, SSM076, SSM022, SSM010, SSM091, SSM025, SSM099, SSM098
Known GenesITSN1
MethodSequencing
AnalysisBreakdancer:4 times standard deviation,VariationHunter:4 times standard deviation and at least 3 supportting reads
PlatformIllumina HiSeq 2000
Comments
ReferenceWong_et_al_2012b
Pubmed ID23290073
Accession Number(s)esv2723358
Frequency
Sample Size96
Observed Gain0
Observed Loss35
Observed Complex0
Frequencyn/a


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