A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6863734



Internal ID9910143
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr22:23328530..24276929hg38UCSC Ensembl
Outerchr22:23670717..24672897hg19UCSC Ensembl
Cytoband22q11.23
Allele length
AssemblyAllele length
hg38948400
hg191002181
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2724041
Supporting Variants
SamplesSSM088
Known GenesC22orf15, C22orf43, CABIN1, CES5AP1, CHCHD10, DDT, DDTL, DERL3, GGT5, GSTT1, GSTT2, GSTT2B, GSTTP1, GSTTP2, GUSBP11, IGLL1, LOC284889, LOC391322, MIF, MMP11, POM121L9P, RGL4, SLC2A11, SMARCB1, SPECC1L, SPECC1L-ADORA2A, SUSD2, VPREB3, ZDHHC8P1, ZNF70
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)essv6863734
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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