A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6784219



Internal ID9842238
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr16:88829032..88829200hg38UCSC Ensembl
Outerchr16:88895440..88895608hg19UCSC Ensembl
Cytoband16q24.3
Allele length
AssemblyAllele length
hg38169
hg19169
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2715050, esv2715051
Supporting Variants
SamplesSSM068
Known GenesGALNS
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)essv6784219
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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