A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2745664



Internal ID9979948
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:27017516..27820117hg38UCSC Ensembl
Outerchr12:27170449..27973050hg19UCSC Ensembl
Cytoband12p11.22
Allele length
AssemblyAllele length
hg38802602
hg19802602
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6677814, essv6916122, essv6894642, essv6873688, essv6862377, essv6977179, essv6691604, essv6882311, essv6936128, essv6916123, essv6908684, essv6977180, essv6965770, essv6819685, essv6851177, essv6857193, essv6758229, essv6819687, essv6834881, essv6755547, essv6765767, essv6741070, essv6879491, essv6691603, essv6706218, essv6673148, essv6755548, essv6894644, essv6888002, essv6908877, essv6949093, essv6876662, essv6908876, essv6900647, essv6870737, essv6809378, essv6668209, essv6755546, essv6779459, essv6744025, essv6971351, essv6673149, essv6912602, essv6924344, essv6920186, essv6728330, essv6885087, essv6698750, essv6720682, essv6920184, essv6823620, essv6805732, essv6916121, essv6722820, essv6939107, essv6927937, essv6688289, essv6949092, essv6752567, essv6953227, essv6827695, essv6738475, essv6931843, essv6673147, essv6936130, essv6908878, essv6735186, essv6891280, essv6787754, essv6806386, essv6865632, essv6908879, essv6953226, essv6965769, essv6775705, essv6691602, essv6722598, essv6842439, essv6758230, essv6722709, essv6936131, essv6709494, essv6851178, essv6709493, essv6803511, essv6677813, essv6760970, essv6711099, essv6900646, essv6971362, essv6688290, essv6927935, essv6959260, essv6899343, essv6812217, essv6873687, essv6894640, essv6879492, essv6927936, essv6916124, essv6749681, essv6772020, essv6924343, essv6949094, essv6916120, essv6685080, essv6953225, essv6862378, essv6711110, essv6965771, essv6971340, essv6891281, essv6891279, essv6940343, essv6867155, essv6908875, essv6857194, essv6894641, essv6845949, essv6687453, essv6912601, essv6834882
SamplesSSM022, SSM007, SSM027, SSM092, SSM053, SSM082, SSM086, SSM006, SSM036, SSM091, SSM084, SSM061, SSM040, SSM078, SSM088, SSM089, SSM090, SSM031, SSM035, SSM025, SSM020, SSM016, SSM057, SSM001, SSM032, SSM024, SSM067, SSM094, SSM097, SSM041, SSM005, SSM012, SSM093, SSM100, SSM056, SSM085, SSM017, SSM009, SSM011, SSM066, SSM029, SSM003, SSM095, SSM030, SSM073, SSM069, SSM021, SSM002, SSM034, SSM063, SSM087, SSM038, SSM046, SSM019, SSM096, SSM079, SSM052, SSM044, SSM074, SSM004, SSM075, SSM015, SSM026, SSM014, SSM049, SSM008, SSM098, SSM018, SSM076, SSM058, SSM059, SSM080
Known GenesARNTL2, C12orf71, KLHL42, MANSC4, MED21, MRPS35, PPFIBP1, REP15, SMCO2, STK38L
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)esv2745664
Frequency
Sample Size96
Observed Gain0
Observed Loss72
Observed Complex0
Frequencyn/a


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