A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2733981



Internal ID10317617
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr7:12241965..12242380hg38UCSC Ensembl
Outerchr7:12281591..12282006hg19UCSC Ensembl
Cytoband7p21.3
Allele length
AssemblyAllele length
hg38416
hg19416
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6967706, essv6861101, essv6915244, essv6975163, essv6731082, essv6833971, essv6948027, essv6884389, essv6939239, essv6934972, essv6875899, essv6723453, essv6814520, essv6676774, essv6778406, essv6797376, essv6826609, essv6919073, essv6964075, essv6671424, essv6727316, essv6667679, essv6889687, essv6687415, essv6927001, essv6708609, essv6698047, essv6878753, essv6930440, essv6751762, essv6680332, essv6827543, essv6786627, essv6762642, essv6712038, essv6930674, essv6740174, essv6943672, essv6765147, essv6923264, essv6869927, essv6782434, essv6822633, essv6805604, essv6811459, essv6872932, essv6957375, essv6690664, essv6830367, essv6802715, essv6881572, essv6845123, essv6818463, essv6808580, essv6771038, essv6893707, essv6837642, essv6952123, essv6694407, essv6734490, essv6767703, essv6899852, essv6903910, essv6856632, essv6849432, essv6799081, essv6684170, essv6680591, essv6701308, essv6748902, essv6969604
SamplesSSM100, SSM036, SSM008, SSM083, SSM027, SSM024, SSM075, SSM045, SSM046, SSM011, SSM064, SSM079, SSM065, SSM038, SSM039, SSM013, SSM009, SSM073, SSM093, SSM074, SSM042, SSM088, SSM041, SSM057, SSM023, SSM028, SSM092, SSM090, SSM021, SSM047, SSM018, SSM069, SSM029, SSM026, SSM017, SSM019, SSM035, SSM094, SSM032, SSM003, SSM031, SSM067, SSM001, SSM086, SSM033, SSM085, SSM068, SSM081, SSM072, SSM082, SSM020, SSM078, SSM016, SSM005, SSM080, SSM037, SSM077, SSM076, SSM022, SSM010, SSM091, SSM095, SSM025, SSM034, SSM052, SSM098, SSM049, SSM056, SSM030, 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)esv2733981
Frequency
Sample Size96
Observed Gain0
Observed Loss71
Observed Complex0
Frequencyn/a


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