A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2722358



Internal ID10305994
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr20:35033775..35034150hg38UCSC Ensembl
Outerchr20:33621578..33621953hg19UCSC Ensembl
Cytoband20q11.22
Allele length
AssemblyAllele length
hg38376
hg19376
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6928699, essv6674613, essv6721586, essv6967268, essv6892001, essv6909708, essv6858580, essv6685816, essv6960810, essv6921181, essv6710257, essv6901295, essv6692366, essv6839528, essv6792822, essv6699338, essv6738516, essv6666242, essv6888690, essv6828604, essv6804152, essv6788713, essv6863456, essv6846623, essv6971793, essv6706930, essv6895457, essv6816214, essv6733049, essv6882966, essv6852643, essv6925220, essv6688991, essv6713822, essv6824537, essv6898279, essv6946010, essv6913546, essv6784534, essv6769190, essv6693232, essv6885674, essv6843395, essv6820728, essv6717719, essv6880128, essv6835746, essv6780380, essv6772998, essv6801202, essv6937160, essv6796997, essv6776562, essv6812861, essv6873609, essv6807047, essv6729192, essv6868250, essv6678742, essv6810053, essv6813321, essv6703423
SamplesSSM100, SSM036, SSM083, SSM071, SSM027, SSM075, SSM046, SSM011, SSM064, SSM079, SSM065, SSM087, SSM038, SSM097, SSM039, SSM009, SSM073, SSM093, SSM050, SSM074, SSM042, SSM088, SSM041, SSM023, SSM028, SSM084, SSM021, SSM047, SSM018, SSM069, SSM029, SSM096, SSM026, SSM089, SSM017, SSM019, SSM035, SSM094, SSM032, SSM031, SSM067, SSM044, SSM014, SSM086, SSM066, SSM085, SSM068, SSM040, SSM072, SSM082, SSM015, SSM078, SSM005, SSM080, SSM077, SSM076, SSM070, SSM095, SSM034, SSM099, SSM043, SSM098
Known GenesTRPC4AP
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)esv2722358
Frequency
Sample Size96
Observed Gain0
Observed Loss62
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer