A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2718684



Internal ID9952976
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:159042562..159046892hg38UCSC Ensembl
Outerchr1:159012352..159016682hg19UCSC Ensembl
Cytoband1q23.1
Allele length
AssemblyAllele length
hg384331
hg194331
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6847208, essv6941914, essv6756642, essv6951195, essv6946602, essv6785687, essv6937797, essv6810428, essv6747883, essv6836292, essv6761925, essv6883332, essv6773555, essv6675313, essv6801716, essv6780995, essv6933420, essv6816733, essv6906217, essv6679287, essv6669139, essv6972372, essv6874803, essv6877749, essv6679286, essv6666970, essv6864103, essv6745034, essv6686245, essv6821301, essv6929184, essv6868804, essv6877754, essv6733579, essv6910170, essv6961741, essv6844876, essv6689360, essv6738917, essv6797575, essv6718259, essv6832697, essv6764251, essv6921854, essv6807473, essv6766641, essv6777046, essv6808931, essv6785111, essv6692892, essv6871804, essv6699718, essv6725969, essv6902643, essv6840081, essv6886069, essv6710693, essv6714358, essv6804501, essv6892426, essv6829116, essv6917695, essv6880515, essv6696543, essv6789263, essv6843981, essv6825107, essv6729739, essv6914091, essv6697070, essv6859330, essv6749642, essv6917554, essv6703948, essv6968056, essv6813263, essv6707356, essv6853418, essv6954936, essv6670099, essv6793418, essv6682928, essv6817665, essv6889114, essv6719732, essv6722102, essv6972566
SamplesSSM059, SSM036, SSM008, SSM083, SSM071, SSM027, SSM024, SSM075, SSM045, SSM046, SSM011, SSM064, SSM079, SSM087, SSM038, SSM097, SSM039, SSM013, SSM009, SSM073, SSM093, SSM074, SSM042, SSM088, SSM002, SSM041, SSM023, SSM028, SSM092, SSM084, SSM090, SSM021, SSM047, SSM018, SSM069, SSM029, SSM096, SSM062, SSM026, SSM089, SSM017, SSM035, SSM094, SSM032, SSM003, SSM031, SSM067, SSM044, SSM001, SSM014, SSM086, SSM033, SSM066, SSM006, SSM085, SSM068, SSM081, SSM040, SSM072, SSM082, SSM020, SSM007, SSM015, SSM078, SSM016, SSM005, SSM080, SSM037, SSM077, SSM076, SSM022, SSM010, SSM091, SSM055, SSM070, SSM095, SSM034, SSM004, SSM043, SSM052, SSM098, SSM049, SSM056, SSM030, SSM063, SSM012
Known GenesIFI16
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)esv2718684
Frequency
Sample Size96
Observed Gain0
Observed Loss86
Observed Complex0
Frequencyn/a


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