A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2714358



Internal ID10297994
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr16:46390236..46393809hg19UCSC Ensembl
Cytoband16q11.2
Allele length
AssemblyAllele length
hg193574
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6721215, essv6824165, essv6692061, essv6858044, essv6839180, essv6779976, essv6682064, essv6885423, essv6685542, essv6824148, essv6842973, essv6703000, essv6858045, essv6674038, essv6809784, essv6882730, essv6835382, essv6800796, essv6724990, essv6690809, essv6852046, essv6828232, essv6949641, essv6966631, essv6792402, essv6688709, essv6928369, essv6867825, essv6960188, essv6784133, essv6706673, essv6796558, essv6913145, essv6732681, essv6953809, essv6870609, essv6932438, essv6891715, essv6888415, essv6960194, essv6839151, essv6828237, essv6776198, essv6721214, essv6696134, essv6895151, essv6879871, essv6966669, essv6905406, essv6725027, essv6717330, essv6852055, essv6901025, essv6945576, essv6772607, essv6721205, essv6688708, essv6971401, essv6674019, essv6788314, essv6674041, essv6713447, essv6936756, essv6709943, essv6940907, essv6905408, essv6909399, essv6863031, essv6688707, essv6975729, essv6916628, essv6665531, essv6815908, essv6728835, essv6812611, essv6690866, essv6920765, essv6688731, essv6936745, essv6685534
SamplesSSM100, SSM036, SSM083, SSM071, SSM027, SSM024, SSM075, SSM045, SSM046, SSM011, SSM079, SSM065, SSM087, SSM097, SSM039, SSM013, SSM093, SSM042, SSM088, SSM041, SSM023, SSM028, SSM084, SSM021, SSM047, SSM069, SSM029, SSM096, SSM026, SSM089, SSM017, SSM019, SSM035, SSM094, SSM031, SSM067, SSM044, SSM014, SSM086, SSM033, SSM066, SSM068, SSM040, SSM072, SSM082, SSM020, SSM015, SSM016, SSM005, SSM080, SSM037, SSM077, SSM076, SSM022, SSM070, SSM095, SSM025, SSM034, SSM004, 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)esv2714358
Frequency
Sample Size96
Observed Gain0
Observed Loss61
Observed Complex0
Frequencyn/a


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