A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6857975



Internal ID9908976
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr16:17032372..17032440hg38UCSC Ensembl
Outerchr16:17126229..17126297hg19UCSC Ensembl
Cytoband16p12.3
Allele length
AssemblyAllele length
hg3869
hg1969
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2714033, esv2714015, esv2714034
Supporting Variants
SamplesSSM087
Known Genes
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)essv6857975
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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