A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2713969



Internal ID9948253
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr16:10764635..10764838hg38UCSC Ensembl
Outerchr16:10858492..10858695hg19UCSC Ensembl
Cytoband16p13.13
Allele length
AssemblyAllele length
hg38204
hg19204
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6728753, essv6784055, essv6871091, essv6900984, essv6812564
SamplesSSM100, SSM046, SSM090, SSM068, SSM076
Known GenesNUBP1
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)esv2713969
Frequency
Sample Size96
Observed Gain0
Observed Loss5
Observed Complex0
Frequencyn/a


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