A curated catalogue of human genomic structural variation

Variant Details

Variant: esv2738474

Internal ID9972814
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr10:77041059..77041483hg38UCSC Ensembl
Outerchr10:78800817..78801241hg19UCSC Ensembl
Allele length
AssemblyAllele length
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6940024, essv6691352, essv6873468, essv6685399, essv6775443, essv6799909, essv6791546, essv6809162, essv6763207, essv6970482, essv6731824, essv6787460, essv6944589, essv6760746, essv6842156, essv6965309, essv6912304, essv6870517, essv6904643, essv6765601, essv6831033, essv6919855, essv6936540, essv6771782, essv6783261, essv6834638, essv6879291, essv6758023, essv6976621, essv6832832, essv6716496, essv6866777, essv6769265, essv6958772, essv6712751, essv6752359, essv6681319, essv6924033, essv6827405, essv6896621, essv6915882, essv6768280, essv6952919, essv6720403, essv6819360, essv6862034, essv6856747, essv6684838, essv6931525, essv6755317, essv6850728, essv6724206, essv6688059, essv6968995, essv6795729, essv6698552, essv6935814, essv6823345, essv6695245, essv6746606, essv6884894, essv6803454, essv6815203, essv6845722, essv6806163, essv6709309, essv6734996, essv6948771, essv6749465, essv6672695, essv6779175, essv6927686, essv6677539, essv6894403, essv6705952, essv6743812, essv6897435
SamplesSSM010, SSM065, SSM022, SSM027, SSM013, SSM053, SSM082, SSM086, SSM006, SSM036, SSM055, SSM091, SSM033, SSM084, SSM061, SSM099, SSM042, SSM040, SSM078, SSM043, SSM088, SSM089, SSM090, SSM064, SSM031, SSM035, SSM025, SSM072, SSM020, SSM071, SSM016, SSM057, SSM032, SSM024, SSM045, SSM067, SSM077, SSM062, SSM005, SSM012, SSM093, SSM056, SSM085, SSM017, SSM009, SSM066, SSM028, SSM029, SSM003, SSM095, SSM047, SSM069, SSM021, SSM037, SSM034, SSM063, SSM087, SSM038, SSM019, SSM023, SSM079, SSM068, SSM044, SSM074, SSM004, SSM075, SSM015, SSM026, SSM049, SSM008, SSM098, SSM018, SSM058, SSM059, SSM081, SSM070, SSM080
Known GenesKCNMA1
AnalysisBreakdancer:4 times standard deviation,VariationHunter:4 times standard deviation and at least 3 supportting reads
PlatformIllumina HiSeq 2000
Pubmed ID23290073
Accession Number(s)esv2738474
Sample Size96
Observed Gain0
Observed Loss77
Observed Complex0

Hosted by The Centre for Applied Genomics
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