A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2737339



Internal ID9971677
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr8:96787831..96787912hg38UCSC Ensembl
Outerchr8:97800059..97800140hg19UCSC Ensembl
Cytoband8q22.1
Allele length
AssemblyAllele length
hg3882
hg1982
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6850228, essv6672163, essv6958200
SamplesSSM086, SSM031, 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)esv2737339
Frequency
Sample Size96
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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