A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2737341



Internal ID9971679
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr8:96787834..96788001hg38UCSC Ensembl
Outerchr8:97800062..97800229hg19UCSC Ensembl
Cytoband8q22.1
Allele length
AssemblyAllele length
hg38168
hg19168
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6672163, essv6814922, essv6958200
SamplesSSM031, SSM077, SSM026
Known GenesCPQ
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)esv2737341
Frequency
Sample Size96
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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