A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6913048



Internal ID10021406
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr16:1240104..1245128hg38UCSC Ensembl
Outerchr16:1290105..1295129hg19UCSC Ensembl
Cytoband16p13.3
Allele length
AssemblyAllele length
hg385025
hg195025
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2750305, esv2750309
Supporting Variants
SamplesSSM015
Known GenesTPSAB1
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)essv6913048
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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