A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2738474



Internal ID9972814
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr10:77041059..77041483hg38UCSC Ensembl
Outerchr10:78800817..78801241hg19UCSC Ensembl
Cytoband10q22.3
Allele length
AssemblyAllele length
hg38425
hg19425
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6940024, essv6771782, essv6758023, essv6716496, essv6765601, essv6968995, essv6894403, essv6944589, essv6677539, essv6935814, essv6862034, essv6919855, essv6806163, essv6823345, essv6850728, essv6749465, essv6791546, essv6691352, essv6970482, essv6879291, essv6965309, essv6927686, essv6827405, essv6952919, essv6712751, essv6734996, essv6799909, essv6763207, essv6698552, essv6915882, essv6775443, essv6752359, essv6720403, essv6809162, essv6866777, essv6783261, essv6948771, essv6897435, essv6842156, essv6873468, essv6870517, essv6724206, essv6681319, essv6912304, essv6760746, essv6769265, essv6958772, essv6904643, essv6709309, essv6695245, essv6884894, essv6787460, essv6931525, essv6743812, essv6672695, essv6746606, essv6731824, essv6819360, essv6856747, essv6768280, essv6936540, essv6795729, essv6688059, essv6755317, essv6896621, essv6705952, essv6831033, essv6779175, essv6684838, essv6685399, essv6845722, essv6976621, essv6815203, essv6834638, essv6832832, essv6803454, essv6924033
SamplesSSM059, SSM036, SSM008, SSM071, SSM027, SSM024, SSM075, SSM045, SSM064, SSM079, SSM065, SSM087, SSM038, SSM013, SSM009, SSM093, SSM074, SSM042, SSM088, SSM057, SSM023, SSM058, SSM028, SSM084, SSM090, SSM021, SSM047, SSM018, SSM069, SSM061, SSM029, SSM062, SSM026, SSM089, SSM017, SSM019, SSM035, SSM032, SSM003, SSM031, SSM067, SSM044, SSM086, SSM033, SSM066, SSM006, SSM085, SSM068, SSM081, SSM040, SSM072, SSM082, SSM020, SSM015, SSM078, SSM016, SSM053, SSM005, SSM080, SSM037, SSM077, SSM022, SSM010, SSM091, SSM055, SSM070, SSM095, SSM025, SSM034, SSM004, SSM099, SSM043, SSM098, SSM049, SSM056, SSM063, SSM012
Known GenesKCNMA1
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)esv2738474
Frequency
Sample Size96
Observed Gain0
Observed Loss77
Observed Complex0
Frequencyn/a


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