A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2734992



Internal ID9969322
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr7:107823615..107824295hg38UCSC Ensembl
Outerchr7:107464060..107464740hg19UCSC Ensembl
Cytoband7q31.1
Allele length
AssemblyAllele length
hg38681
hg19681
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6837758, essv6948146, essv6907923, essv6865996, essv6771136, essv6878863, essv6943813, essv6734583, essv6715844, essv6811572, essv6774876, essv6822750, essv6802822, essv6858043, essv6698130, essv6737212, essv6731202, essv6727456, essv6861277, essv6786758, essv6799219, essv6841559, essv6814626, essv6751856, essv6805714, essv6676901, essv6890643, essv6684291, essv6778540, essv6712157, essv6701449, essv6897002, essv6763709, essv6782531, essv6687535, essv6790864, essv6849666, essv6930807, essv6671627, essv6969749, essv6808683, essv6884480, essv6723568, essv6899967, essv6887280, essv6830490, essv6893841, essv6904028, essv6694558, essv6743392, essv6690769, essv6754808, essv6923389, essv6818620, essv6826739, essv6798387, essv6911650, essv6855728, essv6828376, essv6870044, essv6748985, essv6834095, essv6975706, essv6927111, essv6873037, essv6902552, essv6719763, essv6931573, essv6762832
SamplesSSM100, SSM036, SSM008, SSM083, SSM024, SSM075, SSM045, SSM046, SSM011, SSM079, SSM065, SSM087, SSM038, SSM039, SSM013, SSM009, SSM073, SSM093, SSM050, SSM074, SSM042, SSM088, SSM002, SSM057, SSM023, SSM058, SSM028, SSM084, SSM090, SSM047, SSM018, SSM069, SSM096, SSM062, SSM089, SSM019, SSM035, SSM032, SSM003, SSM031, SSM067, SSM044, SSM001, SSM014, SSM086, SSM066, SSM068, SSM081, SSM072, SSM082, SSM020, SSM015, SSM078, SSM053, SSM080, SSM037, SSM077, SSM076, SSM010, SSM091, SSM070, SSM095, SSM034, SSM099, SSM043, SSM098, SSM049, SSM056, 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)esv2734992
Frequency
Sample Size96
Observed Gain0
Observed Loss69
Observed Complex0
Frequencyn/a


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