A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2714370



Internal ID10298006
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr16:46395623..46400568hg19UCSC Ensembl
Cytoband16q11.2
Allele length
AssemblyAllele length
hg194946
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6943317, essv6858051, essv6806777, essv6879873, essv6820310, essv6975751, essv6911852, essv6809791, essv6936753, essv6706674, essv6870720, essv6824169, essv6824168, essv6891718, essv6936754, essv6891717, essv6909404, essv6690822, essv6909400, essv6891716
SamplesSSM075, SSM011, SSM079, SSM087, SSM097, SSM093, SSM074, SSM002, SSM021, SSM003, SSM014, SSM040, SSM078, SSM005, SSM004
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)esv2714370
Frequency
Sample Size96
Observed Gain0
Observed Loss15
Observed Complex0
Frequencyn/a


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