A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2715061



Internal ID9949346
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr16:88834617..88834824hg38UCSC Ensembl
Outerchr16:88901025..88901232hg19UCSC Ensembl
Cytoband16q24.3
Allele length
AssemblyAllele length
hg38208
hg19208
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6732755
SamplesSSM047
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)esv2715061
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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