A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2714486



Internal ID10298122
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr16:52115192..52115908hg38UCSC Ensembl
Outerchr16:52149104..52149820hg19UCSC Ensembl
Cytoband16q12.1
Allele length
AssemblyAllele length
hg38717
hg19717
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6936772, essv6913164, essv6953843, essv6725040, essv6776844, essv6901824, essv6696145, essv6732697, essv6932471, essv6674081, essv6971416, essv6920787, essv6741535, essv6943384, essv6678397, essv6843027, essv6806786, essv6828279, essv6665568, essv6852080, essv6945590, essv6792433, essv6703033, essv6692073, essv6728848, essv6717360, essv6776231, essv6685564
SamplesSSM036, SSM008, SSM045, SSM046, SSM039, SSM074, SSM023, SSM028, SSM084, SSM021, SSM047, SSM029, SSM017, SSM032, SSM003, SSM031, SSM086, SSM066, SSM020, SSM015, SSM080, SSM037, SSM070, SSM025, SSM034, SSM043, SSM052, 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)esv2714486
Frequency
Sample Size96
Observed Gain0
Observed Loss28
Observed Complex0
Frequencyn/a


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