A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2723658



Internal ID9957958
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr21:44430372..44430723hg38UCSC Ensembl
Outerchr21:45850255..45850606hg19UCSC Ensembl
Cytoband21q22.3
Allele length
AssemblyAllele length
hg38352
hg19352
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6913923, essv6892247, essv6780771, essv6828927, essv6846915, essv6876175, essv6871665, essv6853125, essv6901549, essv6868663, essv6807325, essv6925616, essv6928991, essv6797361, essv6721917, essv6917348, essv6898556, essv6946410, essv6801559, essv6967821, essv6906053, essv6832506, essv6824894, essv6789047, essv6883206, essv6874652, essv6895785, essv6703778, essv6729538, essv6714159, essv6666841, essv6696942, essv6859097, essv6950456, essv6675123, essv6909980, essv6816512, essv6836093, essv6699540, essv6821105, essv6679074, essv6839884, essv6843822, essv6961395, essv6710522, essv6888948, essv6863861, essv6880382
SamplesSSM100, SSM083, SSM071, SSM027, SSM024, SSM046, SSM011, SSM079, SSM087, SSM038, SSM097, SSM039, SSM013, SSM093, SSM074, SSM042, SSM088, SSM041, SSM023, SSM084, SSM090, SSM018, SSM069, SSM029, SSM096, SSM026, SSM089, SSM019, SSM094, SSM032, SSM031, SSM067, SSM044, SSM014, SSM086, SSM085, SSM081, SSM072, SSM082, SSM015, SSM078, SSM016, SSM080, SSM037, SSM077, SSM091, SSM099, SSM098
Known GenesTRPM2
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)esv2723658
Frequency
Sample Size96
Observed Gain0
Observed Loss48
Observed Complex0
Frequencyn/a


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