A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2749790



Internal ID10330760
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr15:66341306..66341784hg38UCSC Ensembl
Outerchr15:66633644..66634122hg19UCSC Ensembl
Cytoband15q22.31
Allele length
AssemblyAllele length
hg38479
hg19479
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6732529, essv6721092, essv6942407, essv6842870, essv6673839, essv6876995, essv6741509, essv6831723, essv6809706, essv6728704, essv6678237, essv6867685, essv6828118, essv6665320, essv6900934, essv6912998, essv6901710, essv6749982, essv6800648, essv6788183, essv6905294, essv6882645, essv6796441, essv6741435, essv6953679, essv6932299, essv6668423, essv6959975, essv6820196, essv6806695, essv6920648, essv6763647, essv6916502, essv6897948, essv6775864, essv6911352, essv6803792, essv6779869, essv6747375, essv6681958, essv6815810, essv6766012, essv6747150, essv6924761, essv6685442, essv6966458, essv6699036, essv6846272, essv6776081, essv6873987, essv6812524, essv6768818, essv6713359, essv6717208, essv6857862, essv6809431, essv6895027, essv6928277, essv6696003, essv6792273, essv6869420, essv6862896, essv6824040, essv6691949, essv6690044, essv6945424, essv6724885, essv6909280, essv6839029, essv6709837, essv6879782, essv6783985, essv6871048, essv6744315, essv6940767, essv6888312, essv6837798, essv6974729, essv6706575, essv6702866, essv6891627, essv6936597, essv6755886, essv6971269, essv6772491, essv6738196, essv6949521, essv6835263, essv6885355, essv6851867, essv6688617, essv6752861
SamplesSSM100, SSM036, SSM008, SSM083, SSM071, SSM027, SSM024, SSM075, SSM045, SSM046, SSM011, SSM064, SSM079, SSM065, SSM087, SSM038, SSM097, SSM039, SSM013, SSM009, SSM073, SSM093, SSM050, SSM074, SSM042, SSM088, SSM002, SSM041, SSM057, SSM023, SSM058, SSM028, SSM092, SSM084, SSM090, SSM021, SSM047, SSM018, SSM069, SSM029, SSM096, SSM062, SSM026, SSM089, SSM017, SSM019, SSM035, SSM094, SSM032, SSM003, SSM031, SSM067, SSM044, SSM001, SSM014, SSM086, SSM033, SSM066, SSM085, SSM068, SSM081, SSM040, SSM072, SSM082, SSM020, SSM007, SSM015, SSM078, SSM016, SSM053, SSM005, SSM080, SSM037, SSM077, SSM076, SSM022, SSM010, SSM091, SSM055, SSM070, SSM095, SSM025, SSM034, SSM004, SSM099, SSM043, SSM052, SSM098, SSM056, SSM030, SSM063, SSM012
Known GenesTIPIN
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)esv2749790
Frequency
Sample Size96
Observed Gain0
Observed Loss92
Observed Complex0
Frequencyn/a


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