A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2714684



Internal ID5061974
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:91561357..93514687hg19UCSC Ensembl
Cytoband1p22.1
Allele length
AssemblyAllele length
hg19n/a
Variant TypeCNV Deletion
Copy Number
Allele State
Allele Origin
Probe Count
Merged StatusM
Merged Variants
Supporting Variantsessv6954857, essv6836254, essv6829071, essv6682884, essv6954859, essv6692846, essv6714309, essv6669068, essv6829074, essv6669069, essv6773508, essv6950627, essv6769591, essv6821262, essv6910122, essv6777001, essv6961669, essv6886036, essv6898663, essv6968002, essv6917296, essv6950795, essv6914053, essv6898662, essv6682883, essv6864040, essv6847130, essv6686213, essv6889069, essv6813223, essv6886037, essv6682885, essv6756603, essv6883303, essv6816673, essv6669777, essv6898665, essv6749209, essv6972477, essv6785070, essv6725919, essv6941858, essv6871769, essv6972476, essv6722063, essv6738873, essv6736034, essv6931261, essv6946559, essv6725921, essv6874766, essv6868770, essv6914054, essv6954860, essv6906168, essv6906166, essv6853343, essv6906167, essv6950628, essv6813224, essv6718221, essv6729692, essv6925758, essv6880477, essv6853341, essv6666940, essv6801671, essv6844465, essv6847128, essv6921797, essv6921799, essv6744999, essv6871770, essv6749198, essv6816671, essv6836255, essv6777000, essv6785067, essv6864044, essv6773507, essv6898664, essv6789225, essv6892392, essv6785068, essv6718222, essv6895902, essv6853345, essv6892391, essv6686212, essv6829072, essv6889070, essv6804460, essv6902600, essv6930150, essv6972478, essv6847132, essv6719364, essv6925759, essv6933367, essv6832663, essv6853344, essv6906169, essv6729693, essv6816672, essv6761895, essv6914055, essv6902601, essv6941857, essv6921798, essv6843944, essv6793367, essv6832664, essv6868771, essv6972475, essv6807434, essv6961670, essv6733537, essv6744997, essv6825052, essv6785069, essv6753555, essv6707314, essv6703913, essv6877716, essv6699669, essv6932372, essv6742200, essv6864043, essv6889071, essv6817242, essv6793366, essv6669071, essv6785209, essv6840037, essv6675269, essv6892390, essv6961671, essv6874767, essv6807435, essv6753556, essv6946558, essv6738874, essv6847129, essv6954858, essv6829073, essv6950806, essv6821261, essv6807436, essv6669070, essv6859273, essv6756604, essv6714308, essv6689313, essv6697034, essv6759112, essv6836256, essv6776998, essv6840038, essv6785220, essv6859272, essv6929141, essv6843945, essv6910121, essv6707315, essv6917503, essv6750659, essv6877398, essv6844476, essv6917502, essv6877715, essv6714307
SamplesSSM010, SSM065, SSM007, SSM027, SSM092, SSM013, SSM053, SSM082, SSM086, SSM036, SSM055, SSM091, SSM084, SSM061, SSM099, SSM040, SSM078, SSM043, SSM088, SSM089, SSM090, SSM031, SSM035, SSM025, SSM020, SSM071, SSM016, SSM057, SSM001, SSM032, SSM039, SSM024, SSM045, SSM067, SSM094, SSM083, SSM050, SSM097, SSM041, SSM077, SSM062, SSM005, SSM012, SSM093, SSM100, SSM085, SSM017, SSM009, SSM011, SSM066, SSM028, SSM029, SSM003, SSM095, SSM030, SSM047, SSM073, SSM069, SSM021, SSM037, SSM034, SSM087, SSM038, SSM046, SSM019, SSM096, SSM023, SSM079, SSM052, SSM044, SSM074, SSM004, SSM075, SSM015, SSM026, SSM014, SSM049, SSM008, SSM098, SSM018, SSM058, SSM059, SSM081, SSM070, SSM080
Known GenesBRDT, BTBD8, C1orf146, CDC7, EPHX4, EVI5, FAM69A, GFI1, GLMN, HFM1, HSP90B3P, KIAA1107, RPAP2, RPL5, SNORA66, SNORD21, TGFBR3
Method
Analysis
PlatformIllumina HiSeq2000
Comments
ReferenceWong_et_al_2012b
Pubmed ID23290073
Accession Number(s)esv2714684
Frequency
Sample Size96
Observed Gain0
Observed Loss85
Observed Complex0
Frequencyn/a


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