A curated catalogue of human genomic structural variation

Variant Details

Variant: esv2728689

Internal ID9963003
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr4:166083153..166083807hg38UCSC Ensembl
Outerchr4:167004305..167004959hg19UCSC Ensembl
Allele length
AssemblyAllele length
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
AnalysisBreakdancer:4 times standard deviation,VariationHunter:4 times standard deviation and at least 3 supportting reads
PlatformIllumina HiSeq 2000
Pubmed ID23290073
Accession Number(s)esv2728689
Sample Size96
Observed Gain0
Observed Loss74
Observed Complex0

Hosted by The Centre for Applied Genomics
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