A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2733876



Internal ID9968201
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr7:3668577..3726077hg38UCSC Ensembl
Outerchr7:3708209..3765709hg19UCSC Ensembl
Cytoband7p22.2
Allele length
AssemblyAllele length
hg3857501
hg1957501
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6872923, essv6855517, essv6934964, essv6957361, essv6896896, essv6757529, essv6833964, essv6939232, essv6754702, essv6930665, essv6740167, essv6751756, essv6743314, essv6762586, essv6704920, essv6799071, essv6814515, essv6861084, essv6919068, essv6748900, essv6680277, essv6963051, essv6680582, essv6841445, essv6911542, essv6690662, essv6830358, essv6731075, essv6827488, essv6708603, essv6712034, essv6884380, essv6715736, essv6969592, essv6730220, essv6845117, essv6837638, essv6915241, essv6926989, essv6805602, essv6930374, essv6771030, essv6762756, essv6705213, essv6737122, essv6952115, essv6767697, essv6774771, essv6782426, essv6923255, essv6786622, essv6723446, essv6684158, essv6899843, essv6760189, essv6875894, essv6765142, essv6818449, essv6878747, essv6778396, essv6802711, essv6811453, essv6694396, essv6967484, essv6746083, essv6680288, essv6889621, essv6901730, essv6964058, essv6671413, essv6790717, essv6903903, essv6797331, essv6948013, essv6975148
SamplesSSM100, SSM059, SSM036, SSM008, SSM083, SSM027, SSM024, SSM045, SSM064, SSM065, SSM087, SSM013, SSM009, SSM073, SSM093, SSM050, SSM074, SSM042, SSM088, SSM002, SSM041, SSM057, SSM058, SSM028, SSM092, SSM084, SSM021, SSM047, SSM018, SSM069, SSM061, SSM029, SSM062, SSM026, SSM017, SSM019, SSM003, SSM031, SSM067, SSM001, SSM033, SSM066, SSM006, SSM085, SSM068, SSM081, SSM040, SSM072, SSM082, SSM020, SSM007, SSM015, SSM078, SSM016, SSM053, SSM005, SSM037, SSM077, SSM076, SSM022, SSM010, SSM091, SSM055, SSM070, SSM095, SSM025, SSM034, SSM004, SSM099, SSM043, SSM052, SSM056, SSM063, SSM012
Known GenesSDK1
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)esv2733876
Frequency
Sample Size96
Observed Gain0
Observed Loss74
Observed Complex0
Frequencyn/a


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