A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2727841



Internal ID9962153
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr4:76027509..76027889hg38UCSC Ensembl
Outerchr4:76948662..76949042hg19UCSC Ensembl
Cytoband4q21.1
Allele length
AssemblyAllele length
hg38381
hg19381
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6693691, essv6836994, essv6736603, essv6821996, essv6848350, essv6883860, essv6676047, essv6878255, essv6707993, essv6860218, essv6833359, essv6956918, essv6810929, essv6918273, essv6919262, essv6759660, essv6822554, essv6851398, essv6697589, essv6670328, essv6817577, essv6781749, essv6777718, essv6790033, essv6951433, essv6914697, essv6825896, essv6742756, essv6906982, essv6808039, essv6686840, essv6903292, essv6767158, essv6962902, essv6947354, essv6739541, essv6865010, essv6886617, essv6770348, essv6745562, essv6929985, essv6968855, essv6922621, essv6726667, essv6854493, essv6910872, essv6813910, essv6852486, essv6762339, essv6722813, essv6926415, essv6869348, essv6934190, essv6683563, essv6798358, essv6748384, essv6675087, essv6785924, essv6700520, essv6942814, essv6893065, essv6711411, essv6704578, essv6829750, essv6889754, essv6718936, essv6840803, essv6690015, essv6844550, essv6802223, essv6973904, essv6715058, essv6896437, essv6756098, essv6774211, essv6794183, essv6724987, essv6938516, essv6881062, essv6679980, essv6734036, essv6730432, essv6754144, essv6757071, essv6883886, essv6956188, essv6805060
SamplesSSM010, SSM065, SSM022, SSM007, SSM027, SSM013, SSM053, SSM082, SSM086, SSM036, SSM055, SSM033, SSM084, SSM061, SSM099, SSM042, SSM040, SSM078, SSM043, SSM088, SSM089, SSM090, SSM064, SSM031, SSM035, SSM025, SSM072, SSM020, SSM071, SSM016, SSM001, SSM032, SSM039, SSM024, SSM045, SSM067, SSM094, SSM083, SSM050, SSM097, SSM041, SSM077, SSM062, SSM005, SSM012, SSM093, SSM056, SSM085, SSM017, SSM011, SSM066, SSM028, SSM029, SSM095, SSM047, SSM073, SSM069, SSM021, SSM002, SSM037, SSM034, SSM087, SSM038, SSM046, SSM019, SSM096, SSM023, SSM079, SSM052, SSM068, SSM044, SSM074, SSM004, SSM075, SSM015, SSM026, SSM014, SSM049, SSM008, SSM098, SSM018, SSM076, SSM058, SSM059, SSM081, SSM070, SSM080
Known GenesART3
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)esv2727841
Frequency
Sample Size96
Observed Gain0
Observed Loss87
Observed Complex0
Frequencyn/a


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