A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2749781



Internal ID10330751
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr15:64340954..64341363hg38UCSC Ensembl
Outerchr15:64633153..64633562hg19UCSC Ensembl
Cytoband15q22.31
Allele length
AssemblyAllele length
hg38410
hg19410
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6724884, essv6912997, essv6800646, essv6681957, essv6678236, essv6741498, essv6728703, essv6735448, essv6839028, essv6820193, essv6747149, essv6665317, essv6940766, essv6846271, essv6796440, essv6897947, essv6862893, essv6828117, essv6871047, essv6928276, essv6885354, essv6673837, essv6900931, essv6909279, essv6792272, essv6702864, essv6775853, essv6857858, essv6869409, essv6888311, essv6721091, essv6741434, essv6783984, essv6766008, essv6945423, essv6924760, essv6974707, essv6812523, essv6835262, essv6851865, essv6690032, essv6696001, essv6891626, essv6738194, essv6920647, essv6713358, essv6942396, essv6752859, essv6691948, essv6936594, essv6772489, essv6706574, essv6685441, essv6971268, essv6806694, essv6916501, essv6932298, essv6867683, essv6717207, essv6809409, essv6966455, essv6699035, essv6815808, essv6949520, essv6905293, essv6788181, essv6882643, essv6959972, essv6953678, essv6688616, essv6842869, essv6911341, essv6837776, essv6768817, essv6873985, essv6747153, essv6901709, essv6824038, essv6776080, essv6803791, essv6755885, essv6779868, essv6709835, essv6763646, essv6713576, essv6831722, essv6809704, essv6895026, essv6749980
SamplesSSM100, SSM036, SSM008, SSM083, SSM071, SSM027, SSM024, SSM075, SSM045, SSM046, SSM011, SSM064, SSM079, SSM065, SSM087, SSM038, SSM097, SSM039, SSM013, SSM009, SSM073, SSM050, SSM074, SSM042, SSM088, SSM002, SSM041, SSM057, SSM023, SSM058, SSM028, SSM084, SSM090, SSM021, SSM018, SSM069, SSM029, SSM096, SSM062, SSM026, SSM089, SSM017, SSM019, SSM035, SSM094, SSM032, SSM003, SSM031, SSM067, SSM044, SSM001, SSM014, SSM086, SSM033, SSM066, SSM006, SSM085, SSM068, SSM081, SSM040, SSM072, SSM082, SSM020, SSM007, SSM015, SSM078, SSM016, SSM005, SSM080, SSM037, SSM077, SSM076, SSM022, SSM010, SSM091, SSM055, SSM070, SSM095, SSM025, SSM034, SSM004, SSM099, SSM043, SSM052, SSM098, SSM049, SSM056, SSM063, SSM012
Known GenesCSNK1G1
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)esv2749781
Frequency
Sample Size96
Observed Gain0
Observed Loss89
Observed Complex0
Frequencyn/a


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