A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6828175



Internal ID10228840
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr16:1397518..1397759hg38UCSC Ensembl
Outerchr16:1447519..1447760hg19UCSC Ensembl
Cytoband16p13.3
Allele length
AssemblyAllele length
hg38242
hg19242
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2750336, esv2750341
Supporting Variants
SamplesSSM080
Known GenesUNKL
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)essv6828175
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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