A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6863671



Internal ID9910199
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr19:53184636..54322450hg38UCSC Ensembl
Outerchr19:53687889..54833722hg19UCSC Ensembl
Cytoband19q13.42
Allele length
AssemblyAllele length
hg381137815
hg191145834
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2718812
Supporting Variants
SamplesSSM088
Known GenesBIRC8, CACNG6, CACNG7, CACNG8, CNOT3, DPRX, FAM90A27P, LENG1, LILRA3, LILRA5, LILRA6, LILRB2, LILRB3, LILRB5, LOC284379, MBOAT7, MIR1283-1, MIR1283-2, MIR1323, MIR371A, MIR371B, MIR372, MIR373, MIR4752, MIR498, MIR512-1, MIR512-2, MIR515-1, MIR515-2, MIR516A1, MIR516A2, MIR516B1, MIR516B2, MIR517A, MIR517B, MIR517C, MIR518A1, MIR518A2, MIR518B, MIR518C, MIR518D, MIR518E, MIR518F, MIR519A1, MIR519A2, MIR519B, MIR519C, MIR519D, MIR519E, MIR520A, MIR520B, MIR520C, MIR520D, MIR520E, MIR520F, MIR520G, MIR520H, MIR521-1, MIR521-2, MIR522, MIR523, MIR524, MIR525, MIR526A1, MIR526A2, MIR526B, MIR527, MIR935, MYADM, NDUFA3, NLRP12, OSCAR, PRKCG, PRPF31, RPS9, TARM1, TFPT, TMC4, TPM3P9, TSEN34, VN1R2, VN1R4, VSTM1, ZNF331, ZNF525, ZNF665, ZNF677, ZNF761, ZNF765, ZNF813, ZNF818P, ZNF845
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)essv6863671
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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