A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2731803



Internal ID9966121
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr6:31044443..31045448hg38UCSC Ensembl
Outerchr6:31012220..31013225hg19UCSC Ensembl
Cytoband6p21.33
Allele length
AssemblyAllele length
hg381006
hg191006
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6869658, essv6849064, essv6963654, essv6865536, essv6805361, essv6760109, essv6745910, essv6727063, essv6704938, essv6826330, essv6927795, essv6690371, essv6855158, essv6754475, essv6911306, essv6743109, essv6886970, essv6884173, essv6882264, essv6790472, essv6734309, essv6730846, essv6808354, essv6703321, essv6715468, essv6825576, essv6736935, essv6943343, essv6723174, essv6947746, essv6794607, essv6830128, essv6951827, essv6794654, essv6683959, essv6748691, essv6694106, essv6956925, essv6907480, essv6887633, essv6837403, essv6774558, essv6903687, essv6701006, essv6680344, essv6751550, essv6926735, essv6677955, essv6786332, essv6881356, essv6798781, essv6822403, essv6844871, essv6671045, essv6833717, essv6767467, essv6770769, essv6739942, essv6896751, essv6728309, essv6938939, essv6814258, essv6969302, essv6778125, essv6719355, essv6915024, essv6860770, essv6974709, essv6875651, essv6759985, essv6841211, essv6764965, essv6697896, essv6782136, essv6934651, essv6960117, essv6930389, essv6918724
SamplesSSM036, SSM008, SSM083, SSM071, SSM027, SSM024, SSM075, SSM045, SSM046, SSM064, SSM079, SSM065, SSM087, SSM038, SSM039, SSM013, SSM009, SSM050, SSM074, SSM088, SSM002, SSM057, SSM023, SSM058, SSM028, SSM092, SSM084, SSM090, SSM021, SSM047, SSM069, SSM061, SSM029, SSM096, SSM026, SSM089, SSM017, SSM019, SSM094, SSM003, SSM031, SSM067, SSM044, SSM014, SSM086, SSM033, SSM066, SSM006, SSM085, SSM068, SSM081, SSM040, SSM072, SSM082, SSM020, SSM007, SSM015, SSM016, SSM053, SSM005, SSM080, SSM037, SSM077, SSM022, SSM010, SSM055, SSM070, SSM095, SSM025, SSM034, SSM004, SSM099, SSM043, SSM052, SSM049, SSM056, SSM063, 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)esv2731803
Frequency
Sample Size96
Observed Gain0
Observed Loss78
Observed Complex0
Frequencyn/a


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