A curated catalogue of human genomic structural variation

Variant Details

Variant: esv2723675

Internal ID9957975
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr21:44602654..44768117hg38UCSC Ensembl
Outerchr21:46022571..46188032hg19UCSC Ensembl
Allele length
AssemblyAllele length
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6836097, essv6863865, essv6909981, essv6725761, essv6961402, essv6868670, essv6843824, essv6784020, essv6906055, essv6846917, essv6668858, essv6793207, essv6668859, essv6843825, essv6689204, essv6744900, essv6874655, essv6666846, essv6954620, essv6967824, essv6793206, essv6880384, essv6925620, essv6880383, essv6718083, essv6925619, essv6941704, essv6832509, essv6836099, essv6868668, essv6773367, essv6921648, essv6756507, essv6917349, essv6828928, essv6832511, essv6961400, essv6859100, essv6898559, essv6913926, essv6766496, essv6917350, essv6729539, essv6801560, essv6789049, essv6816276, essv6921650, essv6933226, essv6797365, essv6780774, essv6784031, essv6668777, essv6776848, essv6921649, essv6682777, essv6967825, essv6925621, essv6816514, essv6742096, essv6863866, essv6928992, essv6950460, essv6843354, essv6679076, essv6925617, essv6961401, essv6784906, essv6764134, essv6725760, essv6868669, essv6913925, essv6846916, essv6853128, essv6937592, essv6797363, essv6892250, essv6941703, essv6666845, essv6692682, essv6729540, essv6780775, essv6718084, essv6675127, essv6883208, essv6843826, essv6725759, essv6937593, essv6859099, essv6750556, essv6954619, essv6813114, essv6906054, essv6721918
SamplesSSM010, SSM065, SSM022, SSM027, SSM013, SSM053, SSM082, SSM086, SSM036, SSM091, SSM033, SSM084, SSM099, SSM043, SSM088, SSM089, SSM031, SSM035, SSM025, SSM072, SSM020, SSM071, SSM016, SSM032, SSM024, SSM045, SSM067, SSM094, SSM097, SSM077, SSM062, SSM093, SSM056, SSM085, SSM017, SSM009, SSM066, SSM029, SSM030, SSM069, SSM021, SSM063, SSM087, SSM046, SSM019, SSM052, SSM068, SSM044, SSM004, SSM015, SSM026, SSM014, SSM008, SSM018, SSM076, SSM058, SSM081, SSM070, SSM080
Known GenesKRTAP10-10, KRTAP10-11, KRTAP10-12, KRTAP10-8, KRTAP10-9, KRTAP12-1, KRTAP12-2, KRTAP12-3, KRTAP12-4, TSPEAR
AnalysisBreakdancer:4 times standard deviation,VariationHunter:4 times standard deviation and at least 3 supportting reads
PlatformIllumina HiSeq 2000
Pubmed ID23290073
Accession Number(s)esv2723675
Sample Size96
Observed Gain0
Observed Loss59
Observed Complex0

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