A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2714950



Internal ID9949235
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr16:87996457..87996637hg38UCSC Ensembl
Outerchr16:88030063..88030243hg19UCSC Ensembl
Cytoband16q24.2
Allele length
AssemblyAllele length
hg38181
hg19181
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6966762, essv6780035, essv6843072, essv6709985, essv6796648, essv6768960
SamplesSSM027, SSM084, SSM064, SSM071, SSM067, SSM041
Known GenesBANP
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)esv2714950
Frequency
Sample Size96
Observed Gain0
Observed Loss6
Observed Complex0
Frequencyn/a


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