A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2723508



Internal ID9957808
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr21:41864680..41865547hg38UCSC Ensembl
Outerchr21:43284789..43285656hg19UCSC Ensembl
Cytoband21q22.3
Allele length
AssemblyAllele length
hg38868
hg19868
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6714144, essv6797347, essv6839870, essv6836079, essv6750547, essv6828916, essv6682761, essv6880373, essv6761812, essv6686092, essv6913911, essv6733414, essv6843266, essv6742083, essv6784885, essv6747721, essv6888942, essv6892237, essv6744890, essv6753447, essv6972196, essv6895773, essv6877616, essv6909971, essv6954592, essv6773350, essv6801540, essv6756495, essv6729527, essv6696929, essv6921626, essv6871655, essv6668851, essv6901545, essv6949507, essv6902442, essv6832493, essv6679064, essv6846904, essv6816142, essv6967801, essv6807317, essv6821089, essv6885922, essv6898549, essv6718409, essv6816502, essv6916163
SamplesSSM010, SSM065, SSM007, SSM027, SSM092, SSM053, SSM082, SSM006, SSM033, SSM061, SSM099, SSM042, SSM078, SSM090, SSM025, SSM072, SSM071, SSM057, SSM032, SSM083, SSM097, SSM077, SSM012, SSM093, SSM100, SSM056, SSM085, SSM017, SSM009, SSM028, SSM003, SSM095, SSM030, SSM047, SSM002, SSM037, SSM034, SSM046, SSM096, SSM052, SSM068, SSM074, SSM015, SSM014, SSM098, SSM058, SSM081, SSM080
Known GenesPRDM15
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)esv2723508
Frequency
Sample Size96
Observed Gain0
Observed Loss48
Observed Complex0
Frequencyn/a


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