A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2715668



Internal ID10299304
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr17:13069927..13070748hg38UCSC Ensembl
Outerchr17:12973244..12974065hg19UCSC Ensembl
Cytoband17p12
Allele length
AssemblyAllele length
hg38822
hg19822
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6976528, essv6776329, essv6909488, essv6858212, essv6953964, essv6835514, essv6816015, essv6928489, essv6688818, essv6796723, essv6674229, essv6932589, essv6839298, essv6971530, essv6717476, essv6852225, essv6879947, essv6699175, essv6895243, essv6710035, essv6725144, essv6691521, essv6905523, essv6885511, essv6877163, essv6713584, essv6788453, essv6960399, essv6761423, essv6966869, essv6747283, essv6812691, essv6901911, essv6949775, essv6728945, essv6772749, essv6703136, essv6924972, essv6824280, essv6828362, essv6800947, essv6839294, essv6920907, essv6777788, essv6936904, essv6846444, essv6780103, essv6682200, essv6692148, essv6811177, essv6732812, essv6843141, essv6874132, essv6898100, essv6831947, essv6665776, essv6696259, essv6741601, essv6784269, essv6678491, essv6792548, essv6806858, essv6685616, essv6803959, essv6941055
SamplesSSM036, SSM008, SSM083, SSM071, SSM027, SSM024, SSM045, SSM046, SSM079, SSM065, SSM087, SSM038, SSM039, SSM013, SSM009, SSM073, SSM093, SSM074, SSM042, SSM041, SSM028, SSM092, SSM084, SSM021, SSM047, SSM018, SSM069, SSM061, SSM029, SSM026, SSM017, SSM019, SSM035, SSM032, SSM031, SSM067, SSM014, SSM086, SSM033, SSM066, SSM085, SSM068, SSM081, SSM072, SSM082, SSM020, SSM005, SSM080, SSM037, SSM077, SSM076, SSM022, SSM010, SSM091, SSM055, SSM070, SSM095, SSM025, SSM034, SSM004, SSM099, SSM043, SSM052, SSM098, 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)esv2715668
Frequency
Sample Size96
Observed Gain0
Observed Loss65
Observed Complex0
Frequencyn/a


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