A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2749898



Internal ID9984182
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr15:75764003..77933523hg38UCSC Ensembl
Outerchr15:76056344..78225865hg19UCSC Ensembl
Cytoband15q24.2
Allele length
AssemblyAllele length
hg382169521
hg192169522
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6942518, essv6796449, essv6867712, essv6932308, essv6749991, essv6772500, essv6758523, essv6877004, essv6783995, essv6897957, essv6835276, essv6916510, essv6806706, essv6867713, essv6869564, essv6800663, essv6842881, essv6792285, essv6713369, essv6809718, essv6924773, essv6909298, essv6895036, essv6717219, essv6779881, essv6966489, essv6882656, essv6857892, essv6905310, essv6945442, essv6966486, essv6775975, essv6851894, essv6869553, essv6747160, essv6945441, essv6905313, essv6803799, essv6738203, essv6709846, essv6665349, essv6974795, essv6702882, essv6862921, essv6905311, essv6928286, essv6839045, essv6828132, essv6688628, essv6681968, essv6888324, essv6688627, essv6846277, essv6744325, essv6747161, essv6913008, essv6717221, essv6696013, essv6913009, essv6690132, essv6815823, essv6888323, essv6685456, essv6721102, essv6966488, essv6920656, essv6735463, essv6897956, essv6812533, essv6685455, essv6940776, essv6673867, essv6905312, essv6792284, essv6691956, essv6665350, essv6949535, essv6713368, essv6768826, essv6869575, essv6871059, essv6820217, essv6900943, essv6738202, essv6932309, essv6749990, essv6688629, essv6891638, essv6678248, essv6668430, essv6873993, essv6888325, essv6824058, essv6806705, essv6673866, essv6724894, essv6824057, essv6748153, essv6953692, essv6862918, essv6728715, essv6788196, essv6702883, essv6960000, essv6862920, essv6966487, essv6713367, essv6678249, essv6857891, essv6812534, essv6783996, essv6851895
SamplesSSM100, SSM059, SSM036, SSM008, SSM083, SSM071, SSM027, SSM024, SSM075, SSM045, SSM046, SSM011, SSM064, SSM079, SSM065, SSM087, SSM097, SSM039, SSM013, SSM073, SSM050, SSM074, SSM042, SSM088, SSM041, SSM023, SSM092, SSM084, SSM090, SSM018, SSM069, SSM029, SSM096, SSM026, SSM089, SSM017, SSM019, SSM035, SSM094, SSM032, SSM003, SSM031, SSM067, SSM044, SSM001, SSM014, SSM086, SSM033, SSM085, SSM068, SSM072, SSM082, SSM020, SSM015, SSM078, SSM016, SSM053, SSM005, SSM080, SSM037, SSM077, SSM076, SSM022, SSM091, SSM055, SSM070, SSM025, SSM034, SSM004, SSM099, SSM043, SSM098, SSM049, SSM056, SSM030
Known GenesC15orf27, ETFA, FBXO22, FBXO22-AS1, HMG20A, ISL2, LINC00597, LINGO1, LOC253044, LOC645752, NRG4, PEAK1, PSTPIP1, RCN2, SCAPER, TSPAN3, TYRO3P, UBE2Q2
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)esv2749898
Frequency
Sample Size96
Observed Gain0
Observed Loss75
Observed Complex0
Frequencyn/a


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