A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2728689



Internal ID9963003
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr4:166083153..166083807hg38UCSC Ensembl
Outerchr4:167004305..167004959hg19UCSC Ensembl
Cytoband4q32.3
Allele length
AssemblyAllele length
hg38655
hg19655
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6833442, essv6734104, essv6903390, essv6926489, essv6907112, essv6822096, essv6722895, essv6774284, essv6817734, essv6957618, essv6667351, essv6844626, essv6690101, essv6751308, essv6963067, essv6922711, essv6754222, essv6792055, essv6860357, essv6700634, essv6764763, essv6951517, essv6748457, essv6805136, essv6781841, essv6947441, essv6676152, essv6757143, essv6794297, essv6811014, essv6711498, essv6725732, essv6798465, essv6790135, essv6715137, essv6889856, essv6786014, essv6865142, essv6767234, essv6770422, essv6693782, essv6875411, essv6739634, essv6736670, essv6859820, essv6910945, essv6802296, essv6924852, essv6686925, essv6742833, essv6883929, essv6914765, essv6840880, essv6918368, essv6881146, essv6680058, essv6926818, essv6854650, essv6757043, essv6823232, essv6708090, essv6837074, essv6829829, essv6697663, essv6899383, essv6896502, essv6719046, essv6813993, essv6777802, essv6852276, essv6762397, essv6893141, essv6942931, essv6878333
SamplesSSM010, SSM065, SSM007, SSM027, SSM092, SSM013, SSM053, SSM082, SSM036, SSM033, SSM084, SSM099, SSM042, SSM078, SSM043, SSM088, SSM089, SSM064, SSM035, SSM025, SSM072, SSM071, SSM016, SSM057, SSM001, SSM032, SSM039, SSM024, SSM045, SSM067, SSM094, SSM083, SSM050, SSM097, SSM041, SSM077, SSM062, SSM093, SSM100, SSM056, SSM085, SSM017, SSM009, SSM011, SSM066, SSM003, SSM095, SSM030, SSM073, SSM069, SSM002, SSM037, SSM063, SSM087, SSM038, SSM019, SSM023, SSM079, SSM052, SSM068, SSM044, SSM074, SSM004, SSM015, SSM014, SSM049, SSM008, SSM098, SSM018, SSM076, SSM058, SSM059, SSM081, SSM070
Known GenesTLL1
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)esv2728689
Frequency
Sample Size96
Observed Gain0
Observed Loss74
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer