A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2750395



Internal ID9984679
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr16:3066792..3067265hg38UCSC Ensembl
Outerchr16:3116793..3117266hg19UCSC Ensembl
Cytoband16p13.3
Allele length
AssemblyAllele length
hg38474
hg19474
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6920711, essv6960086, essv6895070, essv6924823, essv6851958, essv6776140, essv6966557, essv6831772, essv6869909, essv6809747, essv6901758
SamplesSSM027, SSM075, SSM011, SSM018, SSM026, SSM017, SSM086, SSM066, SSM081, SSM098, SSM012
Known GenesIL32
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)esv2750395
Frequency
Sample Size96
Observed Gain0
Observed Loss11
Observed Complex0
Frequencyn/a


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