A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6958060



Internal ID9719939
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr8:11913675..12713055hg38UCSC Ensembl
Outerchr8:11771184..12570564hg19UCSC Ensembl
Cytoband8p23.1
Allele length
AssemblyAllele length
hg38799381
hg19799381
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2736614
Supporting Variants
SamplesSSM026
Known GenesDEFB109P1, DEFB130, DEFB134, DEFB135, DEFB136, FAM66A, FAM66D, FAM86B1, FAM86B2, FAM90A25P, FAM90A2P, LOC100133267, LOC100506990, LOC392196, LOC649352, LOC729732, USP17L2, USP17L7, ZNF705D
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)essv6958060
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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