A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2714844



Internal ID10298480
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr16:85208517..85209190hg38UCSC Ensembl
Outerchr16:85242123..85242796hg19UCSC Ensembl
Cytoband16q24.1
Allele length
AssemblyAllele length
hg38674
hg19674
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6776262, essv6682133, essv6741560, essv6871179, essv6885470
SamplesSSM090, SSM033, SSM066, SSM095, SSM052
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)esv2714844
Frequency
Sample Size96
Observed Gain0
Observed Loss5
Observed Complex0
Frequencyn/a


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