A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2736614



Internal ID9970946
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr8:11913671..12713055hg38UCSC Ensembl
Outerchr8:11771180..12570564hg19UCSC Ensembl
Cytoband8p23.1
Allele length
AssemblyAllele length
hg38799385
hg19799385
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6958060, essv6765383, essv6667892, essv6856139, essv6964680
SamplesSSM027, SSM030, SSM063, SSM087, SSM026
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)esv2736614
Frequency
Sample Size96
Observed Gain0
Observed Loss55
Observed Complex0
Frequencyn/a


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