A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6960109



Internal ID9715754
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr16:15292092..18247911hg38UCSC Ensembl
Outerchr16:15385949..18341768hg19UCSC Ensembl
Cytoband16p12.3
Allele length
AssemblyAllele length
hg382955820
hg192955820
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2714015
Supporting Variants
SamplesSSM026
Known GenesABCC1, ABCC6, C16orf45, FOPNL, KIAA0430, LOC100288162, MIR3179-1, MIR3179-2, MIR3179-3, MIR3180-1, MIR3180-2, MIR3180-3, MIR484, MIR6506, MIR6511A-2, MIR6770-2, MPV17L, MYH11, NDE1, NOMO3, NPIPA5, NPIPA7, NPIPA8, PKD1P1, XYLT1
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)essv6960109
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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