A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6976391



Internal ID9735032
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr9:133317737..135521553hg38UCSC Ensembl
Outerchr9:136184572..138413399hg19UCSC Ensembl
Cytoband9q34.2
Allele length
AssemblyAllele length
hg382203817
hg192228828
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2739138
Supporting Variants
SamplesSSM029
Known GenesADAMTS13, ADAMTSL2, BRD3, C9orf116, C9orf62, C9orf96, CACFD1, COL5A1, DBH, DBH-AS1, FAM163B, FCN1, FCN2, LCN1, LINC00094, LOC101448202, LOC401557, MED22, MIR3689A, MIR3689B, MIR3689C, MIR3689D1, MIR3689D2, MIR3689E, MIR3689F, MIR4669, MRPS2, OLFM1, PPP1R26, PPP1R26-AS1, REXO4, RNU6ATAC, RPL7A, RXRA, SARDH, SLC2A6, SNORD24, SNORD36A, SNORD36B, SNORD36C, SURF1, SURF2, SURF4, SURF6, TMEM8C, VAV2, WDR5
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)essv6976391
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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