A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2723675



Internal ID9957975
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr21:44602654..44768117hg38UCSC Ensembl
Outerchr21:46022571..46188032hg19UCSC Ensembl
Cytoband21q22.3
Allele length
AssemblyAllele length
hg38165464
hg19165462
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6937592, essv6729539, essv6766496, essv6668858, essv6961402, essv6843354, essv6725759, essv6967825, essv6961400, essv6843824, essv6863866, essv6853128, essv6828928, essv6689204, essv6921649, essv6859100, essv6941704, essv6668777, essv6880384, essv6729540, essv6859099, essv6742096, essv6933226, essv6925621, essv6909981, essv6832511, essv6921648, essv6868668, essv6764134, essv6846917, essv6780775, essv6925619, essv6913925, essv6846916, essv6917350, essv6906054, essv6793206, essv6892250, essv6692682, essv6675127, essv6750556, essv6679076, essv6784020, essv6836099, essv6967824, essv6832509, essv6668859, essv6780774, essv6725760, essv6789049, essv6836097, essv6843826, essv6898559, essv6721918, essv6883208, essv6917349, essv6813114, essv6744900, essv6797365, essv6868670, essv6843825, essv6666846, essv6718084, essv6954620, essv6725761, essv6816276, essv6950460, essv6874655, essv6868669, essv6797363, essv6776848, essv6928992, essv6756507, essv6784906, essv6921650, essv6666845, essv6816514, essv6801560, essv6941703, essv6880383, essv6784031, essv6773367, essv6961401, essv6682777, essv6718083, essv6925617, essv6937593, essv6913926, essv6954619, essv6793207, essv6863865, essv6925620, essv6906055
SamplesSSM036, SSM008, SSM071, SSM027, SSM024, SSM045, SSM046, SSM065, SSM087, SSM097, SSM013, SSM009, SSM093, SSM088, SSM058, SSM084, SSM021, SSM018, SSM069, SSM029, SSM062, SSM026, SSM089, SSM017, SSM019, SSM035, SSM094, SSM032, SSM031, SSM067, SSM044, SSM014, SSM086, SSM033, SSM066, SSM085, SSM068, SSM081, SSM072, SSM082, SSM020, SSM015, SSM016, SSM053, SSM080, SSM077, SSM076, SSM022, SSM010, SSM091, SSM070, SSM025, SSM004, SSM099, SSM043, SSM052, SSM056, SSM030, SSM063
Known GenesKRTAP10-10, KRTAP10-11, KRTAP10-12, KRTAP10-8, KRTAP10-9, KRTAP12-1, KRTAP12-2, KRTAP12-3, KRTAP12-4, TSPEAR
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)esv2723675
Frequency
Sample Size96
Observed Gain0
Observed Loss59
Observed Complex0
Frequencyn/a


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