A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2714521



Internal ID10298157
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr16:57070576..57071202hg38UCSC Ensembl
Outerchr16:57104488..57105114hg19UCSC Ensembl
Cytoband16q13
Allele length
AssemblyAllele length
hg38627
hg19627
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6891748, essv6960224, essv6901826, essv6768928, essv6920790, essv6966702, essv6810443, essv6696151, essv6877096, essv6776877, essv6713501, essv6665575, essv6735533, essv6838610, essv6703036, essv6858066, essv6788350, essv6780002, essv6761355, essv6714310, essv6691032, essv6913167, essv6728852, essv6725046
SamplesSSM008, SSM027, SSM045, SSM046, SSM064, SSM087, SSM097, SSM039, SSM009, SSM042, SSM092, SSM069, SSM061, SSM029, SSM026, SSM017, SSM067, SSM006, SSM015, SSM005, SSM037, SSM010, SSM049, SSM012
Known GenesNLRC5
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)esv2714521
Frequency
Sample Size96
Observed Gain0
Observed Loss24
Observed Complex0
Frequencyn/a


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