A curated catalogue of human genomic structural variation

Variant Details

Variant: esv2714684

Internal ID9948968
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:91095800..93049130hg38UCSC Ensembl
Outerchr1:91561357..93514687hg19UCSC Ensembl
Allele length
AssemblyAllele length
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6954857, essv6836254, essv6829071, essv6682884, essv6954859, essv6714309, essv6692846, essv6669068, essv6829074, essv6669069, essv6950627, essv6773508, essv6769591, essv6821262, essv6910122, essv6777001, essv6961669, essv6886036, essv6898663, essv6968002, essv6917296, essv6950795, essv6898662, essv6682883, essv6914053, essv6864040, essv6847130, essv6686213, essv6889069, essv6813223, essv6886037, essv6682885, essv6883303, essv6756603, essv6816673, essv6898665, essv6669777, essv6749209, essv6972477, essv6785070, essv6725919, essv6941858, essv6871769, essv6972476, essv6722063, essv6738873, essv6931261, essv6736034, essv6946559, essv6725921, essv6868770, essv6874766, essv6914054, essv6954860, essv6906168, essv6853343, essv6906166, essv6906167, essv6950628, essv6813224, essv6718221, essv6729692, essv6925758, essv6880477, essv6853341, essv6666940, essv6801671, essv6847128, essv6844465, essv6921797, essv6921799, essv6744999, essv6871770, essv6749198, essv6816671, essv6836255, essv6777000, essv6785067, essv6864044, essv6773507, essv6898664, essv6789225, essv6785068, essv6892392, essv6853345, essv6718222, essv6895902, essv6829072, essv6892391, essv6686212, essv6889070, essv6902600, essv6804460, essv6930150, essv6847132, essv6972478, essv6719364, essv6925759, essv6933367, essv6832663, essv6853344, essv6729693, essv6906169, essv6816672, essv6761895, essv6902601, essv6914055, essv6941857, essv6843944, essv6921798, essv6793367, essv6832664, essv6868771, essv6807434, essv6972475, essv6961670, essv6733537, essv6744997, essv6825052, essv6785069, essv6707314, essv6753555, essv6703913, essv6877716, essv6699669, essv6932372, essv6742200, essv6864043, essv6889071, essv6817242, essv6669071, essv6793366, essv6785209, essv6840037, essv6675269, essv6892390, essv6961671, essv6874767, essv6807435, essv6753556, essv6946558, essv6847129, essv6954858, essv6738874, essv6829073, essv6950806, essv6821261, essv6807436, essv6669070, essv6859273, essv6756604, essv6714308, essv6689313, essv6759112, essv6697034, 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, KIAA1107, RPAP2, RPL5, SNORA66, SNORD21, TGFBR3
AnalysisBreakdancer:4 times standard deviation,VariationHunter:4 times standard deviation and at least 3 supportting reads
PlatformIllumina HiSeq 2000
Pubmed ID23290073
Accession Number(s)esv2714684
Sample Size96
Observed Gain0
Observed Loss85
Observed Complex0

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