A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6799502



Internal ID9856470
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr8:6933435..6940678hg38UCSC Ensembl
Outerchr8:6790957..6798200hg19UCSC Ensembl
Cytoband8p23.1
Allele length
AssemblyAllele length
hg387244
hg197244
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2736548, esv2736546, esv2736550
Supporting Variants
SamplesSSM072
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)essv6799502
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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