A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2714847



Internal ID10298483
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr16:85361222..85361524hg38UCSC Ensembl
Outerchr16:85394828..85395130hg19UCSC Ensembl
Cytoband16q24.1
Allele length
AssemblyAllele length
hg38303
hg19303
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6874094, essv6713527, essv6768953, essv6674132, essv6913194, essv6788375, essv6843062, essv6800868, essv6858104, essv6936805, essv6828306, essv6728878, essv6688773, essv6810665, essv6867893, essv6796641
SamplesSSM071, SSM046, SSM064, SSM087, SSM009, SSM042, SSM084, SSM021, SSM069, SSM089, SSM035, SSM031, SSM072, SSM015, SSM080, SSM091
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)esv2714847
Frequency
Sample Size96
Observed Gain0
Observed Loss16
Observed Complex0
Frequencyn/a


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