A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2734827



Internal ID10318463
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr7:93912483..93913225hg38UCSC Ensembl
Outerchr7:93541795..93542537hg19UCSC Ensembl
Cytoband7q21.3
Allele length
AssemblyAllele length
hg38743
hg19743
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6907903, essv6723551, essv6671607, essv6737200, essv6873022, essv6865970, essv6975344, essv6890499, essv6814614, essv6794990, essv6760272, essv6969728, essv6857876, essv6754794, essv6681166, essv6727439, essv6676885, essv6790842, essv6786738, essv6701428, essv6904011, essv6757604, essv6746158, essv6719744, essv6667728, essv6878849, essv6805694, essv6698123, essv6902362, essv6708694, essv6915333, essv6899949, essv6767795, essv6743378, essv6712140, essv6849636, essv6884470, essv6911631, essv6939349, essv6964240, essv6931385, essv6684272, essv6861256, essv6740261, essv6828253, essv6798253, essv6705621, essv6690755, essv6778520, essv6822733, essv6826725, essv6782517, essv6705323, essv6887266, essv6927095, essv6818596, essv6748969, essv6837742, essv6881660, essv6893826, essv6799200, essv6802802, essv6751841, essv6731191, essv6730976, essv6841537, essv6845207, essv6734573, essv6943794, essv6763520, essv6715830, essv6774859, essv6974372, essv6687519, essv6948128, essv6830473, essv6834082, essv6923372, essv6957539, essv6811559, essv6896986, essv6930790, essv6875971, essv6855701, essv6694539, essv6680695
SamplesSSM100, SSM059, SSM036, SSM008, SSM083, SSM071, SSM027, SSM024, SSM045, SSM046, SSM011, SSM064, SSM079, SSM087, SSM038, SSM039, SSM013, SSM009, SSM073, SSM093, SSM050, SSM074, SSM042, SSM088, SSM002, SSM041, SSM057, SSM023, SSM058, SSM028, SSM092, SSM084, SSM047, SSM018, SSM069, SSM061, SSM029, SSM096, SSM026, SSM089, SSM019, SSM035, SSM094, SSM032, SSM003, SSM031, SSM067, SSM044, SSM001, SSM014, SSM086, SSM033, SSM066, SSM006, SSM085, SSM068, SSM081, SSM040, SSM072, SSM082, SSM020, SSM007, SSM015, SSM078, SSM016, SSM053, SSM005, SSM080, SSM037, SSM077, SSM076, SSM022, SSM010, SSM091, SSM055, SSM070, SSM095, SSM034, SSM099, SSM043, SSM052, SSM098, SSM049, SSM056, SSM030, SSM012
Known Genes
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)esv2734827
Frequency
Sample Size96
Observed Gain0
Observed Loss86
Observed Complex0
Frequencyn/a


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