A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2727865



Internal ID10311501
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr4:79966898..79972929hg38UCSC Ensembl
Outerchr4:80888052..80894083hg19UCSC Ensembl
Cytoband4q21.21
Allele length
AssemblyAllele length
hg386032
hg196032
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6869351, essv6956192, essv6700833, essv6951437, essv6808044, essv6767161, essv6854496, essv6840807, essv6922624, essv6860223, essv6781752, essv6748388, essv6686845, essv6872370, essv6906987, essv6791399, essv6924041, essv6910875, essv6833362, essv6926419, essv6790036, essv6914700, essv6844553, essv6822587, essv6736607, essv6942819, essv6794189, essv6770350, essv6851420, essv6718938, essv6745564, essv6722816, essv6929987, essv6938519, essv6968859, essv6899300, essv6962908, essv6739545, essv6667298, essv6742759, essv6852930, essv6918278, essv6777721, essv6697594, essv6704582, essv6693693, essv6903298, essv6774214, essv6756142, essv6973908, essv6829753, essv6690017, essv6822000, essv6730436, essv6896440, essv6762341, essv6715061, essv6889757, essv6676051, essv6759665, essv6675131, essv6725031, essv6810934, essv6785929, essv6865015, essv6754145, essv6764713, essv6813914, essv6798361, essv6956985, essv6848360, essv6919595, essv6881064, essv6886622, essv6825900, essv6883863, essv6734040, essv6817579, essv6947357, essv6934197, essv6700523, essv6875334, essv6726672, essv6757073, essv6679983, essv6893069, essv6878258, essv6707997, essv6837001, essv6683567, essv6883919, essv6751225, essv6670334, essv6711415
SamplesSSM100, SSM059, SSM036, SSM008, SSM083, SSM071, SSM027, SSM024, SSM075, SSM045, SSM046, SSM011, SSM064, SSM079, SSM065, SSM087, SSM038, SSM097, SSM039, SSM013, SSM009, SSM093, SSM050, SSM042, SSM088, SSM002, SSM041, SSM057, SSM023, SSM058, SSM028, SSM092, SSM084, SSM090, SSM021, SSM047, SSM018, SSM069, SSM061, 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, SSM053, SSM005, SSM080, SSM037, SSM077, SSM076, SSM022, SSM010, SSM091, SSM055, SSM070, SSM095, SSM025, SSM034, SSM004, SSM099, SSM043, SSM052, SSM098, SSM049, SSM056, SSM030, SSM063, SSM012
Known GenesANTXR2
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)esv2727865
Frequency
Sample Size96
Observed Gain0
Observed Loss94
Observed Complex0
Frequencyn/a


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