A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2716591



Internal ID10300227
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr17:83011987..83012227hg38UCSC Ensembl
Outerchr17:80969863..80970103hg19UCSC Ensembl
Cytoband17q25.3
Allele length
AssemblyAllele length
hg38241
hg19241
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6811999, essv6665948, essv6835595, essv6882858, essv6880024, essv6901994, essv6967021, essv6932693, essv6839386, essv6846514, essv6941163, essv6885573, essv6713669, essv6895323, essv6678574, essv6674367, essv6792642, essv6806930, essv6796822, essv6888590, essv6721427, essv6949883, essv6891877, essv6696371, essv6812752, essv6872242, essv6685680, essv6945821, essv6699235, essv6913369, essv6769075, essv6732904, essv6828443, essv6824373, essv6820539, essv6905613, essv6776423, essv6863256, essv6747357, essv6784370, essv6868075, essv6925077, essv6801038, essv6788548, essv6852383, essv6954057, essv6710117, essv6977295, essv6871274, essv6843240, essv6898179, essv6688880, essv6858351, essv6729050, essv6909560, essv6725244, essv6692199, essv6809943, essv6780215, essv6928569, essv6832035, essv6703240, essv6916840, essv6816092, essv6901172, essv6945129, essv6960556, essv6874218, essv6692234, essv6682290
SamplesSSM100, SSM036, SSM083, SSM071, SSM027, SSM024, SSM075, SSM045, SSM046, SSM011, SSM064, SSM079, SSM087, SSM038, SSM097, SSM039, SSM013, SSM009, SSM093, SSM074, SSM042, SSM088, SSM041, SSM023, SSM084, SSM090, SSM047, SSM018, SSM069, SSM029, SSM096, SSM026, SSM089, SSM019, SSM035, SSM094, SSM032, SSM003, SSM031, SSM067, SSM044, SSM014, SSM086, SSM033, SSM066, SSM085, SSM068, SSM081, SSM072, SSM082, SSM020, SSM015, SSM078, SSM016, SSM005, SSM080, SSM037, SSM077, SSM076, SSM022, SSM091, SSM055, SSM070, SSM095, SSM025, SSM034, SSM004, SSM099, SSM098, SSM012
Known GenesB3GNTL1
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)esv2716591
Frequency
Sample Size96
Observed Gain0
Observed Loss70
Observed Complex0
Frequencyn/a


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