A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2714355



Internal ID10297991
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr16:46387795..46390596hg19UCSC Ensembl
Cytoband16q11.2
Allele length
AssemblyAllele length
hg192802
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv357e201
Supporting Variantsessv6960172, essv6953816, essv6852045, essv6732657, essv6858044, essv6678351, essv6732649, essv6678352, essv6842977, essv6949636, essv6824145, essv6842972, essv6728795, essv6709937, essv6702997, essv6717321, essv6728812, essv6828256, essv6792387, essv6932431, essv6717322, essv6692042, essv6776189, essv6949633, essv6835385, essv6776194, essv6839145, essv6835381, essv6932420, essv6713467, essv6696123, essv6824144, essv6928367, essv6949637, essv6800807, essv6696122, essv6688706, essv6966630, essv6949639, essv6971386, essv6784128, essv6839148, essv6815893, essv6966645, essv6725003, essv6916604, essv6888412, essv6721230, essv6721204, essv6709949, essv6784112, essv6928366, essv6913123, essv6788300, essv6916605, essv6940902, essv6828236, essv6940890, essv6792398, essv6895118, essv6788301, essv6945556, essv6696118, essv6815905, essv6867822, essv6796595, essv6674014, essv6685533, essv6895130, essv6835383, essv6690710, essv6713457, essv6888407, essv6702993, essv6843007, essv6682050, essv6800786, essv6724989, essv6682049, essv6796562, essv6779964, essv6913124, essv6776190, essv6800808, essv6932432, essv6674015
SamplesSSM036, SSM083, SSM071, SSM027, SSM024, SSM045, SSM046, SSM079, SSM087, SSM039, SSM042, SSM041, SSM023, SSM028, SSM084, SSM047, SSM069, SSM096, SSM026, SSM089, SSM019, SSM035, SSM032, SSM031, SSM067, SSM044, SSM086, SSM033, SSM066, SSM068, SSM072, SSM082, SSM020, SSM015, SSM016, SSM005, SSM080, SSM037, SSM077, SSM022, SSM070, SSM025, SSM034, SSM043, SSM098
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)esv2714355
Frequency
Sample Size96
Observed Gain0
Observed Loss45
Observed Complex0
Frequencyn/a


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