A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2721067



Internal ID9955363
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:165158155..165160291hg38UCSC Ensembl
Outerchr2:166014665..166016801hg19UCSC Ensembl
Cytoband2q24.3
Allele length
AssemblyAllele length
hg382137
hg192137
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6853865, essv6872032, essv6832970, essv6840383, essv6898935, essv6693234, essv6859677, essv6892691, essv6920362, essv6801924, essv6889366, essv6825820, essv6946906, essv6847576, essv6886283, essv6816375, essv6810628, essv6714647, essv6922171, essv6785440, essv6689649, essv6807699, essv6721944, essv6675605, essv6813520, essv6667105, essv6753827, essv6819664, essv6829371, essv6726259, essv6742459, essv6752276, essv6896130, essv6902916, essv6821585, essv6686498, essv6880253, essv6764439, essv6781324, essv6745241, essv6910474, essv6698331, essv6722397, essv6817069, essv6844223, essv6750914, essv6739179, essv6869033, essv6825428, essv6777339, essv6953529, essv6929524, essv6793727, essv6950975, essv6955458, essv6707630, essv6710986, essv6942270, essv6704214
SamplesSSM010, SSM007, SSM013, SSM053, SSM082, SSM006, SSM036, SSM055, SSM091, SSM084, SSM099, SSM042, SSM040, SSM078, SSM043, SSM088, SSM090, SSM035, SSM025, SSM020, SSM071, SSM057, SSM001, SSM032, SSM024, SSM045, SSM067, SSM097, SSM041, SSM077, SSM012, SSM100, SSM085, SSM011, SSM003, SSM030, SSM073, SSM069, SSM002, SSM037, SSM063, SSM087, SSM046, SSM096, SSM023, SSM079, SSM052, SSM068, SSM004, SSM075, SSM015, SSM026, SSM008, SSM098, SSM018, SSM076, SSM058, SSM081, SSM080
Known GenesSCN3A
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)esv2721067
Frequency
Sample Size96
Observed Gain0
Observed Loss59
Observed Complex0
Frequencyn/a


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