A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2714774



Internal ID10298410
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr16:81085767..81086280hg38UCSC Ensembl
Outerchr16:81119372..81119885hg19UCSC Ensembl
Cytoband16q23.2
Allele length
AssemblyAllele length
hg38514
hg19514
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6971447, essv6820351, essv6735549, essv6761369, essv6766096, essv6682118, essv6741556, essv6755989, essv6877118, essv6747239, essv6936799, essv6777155, essv6752965, essv6744406, essv6665620, essv6750063, essv6838843
SamplesSSM008, SSM057, SSM058, SSM028, SSM092, SSM021, SSM061, SSM029, SSM033, SSM078, SSM053, SSM010, SSM055, SSM052, SSM049, SSM056, SSM063
Known GenesGCSH
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)esv2714774
Frequency
Sample Size96
Observed Gain0
Observed Loss17
Observed Complex0
Frequencyn/a


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