A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2736550



Internal ID9970882
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr8:6933422..6940679hg38UCSC Ensembl
Outerchr8:6790944..6798201hg19UCSC Ensembl
Cytoband8p23.1
Allele length
AssemblyAllele length
hg387258
hg197258
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1199e201
Supporting Variantsessv6919482, essv6731459, essv6799502, essv6894059, essv6805885, essv6879025, essv6850104, essv6705613, essv6746348, essv6850105
SamplesSSM093, SSM074, SSM047, SSM017, SSM086, SSM040, SSM072, SSM055, SSM098
Known GenesDEFA4
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)esv2736550
Frequency
Sample Size96
Observed Gain0
Observed Loss9
Observed Complex0
Frequencyn/a


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