A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2714188



Internal ID10297824
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr16:30153152..30153443hg38UCSC Ensembl
Outerchr16:30164473..30164764hg19UCSC Ensembl
Cytoband16p11.2
Allele length
AssemblyAllele length
hg38292
hg19292
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6766059, essv6735506, essv6838309, essv6713426, essv6755949, essv6761339, essv6874038, essv6820290, essv6744370, essv6690554, essv6936686, essv6776167, essv6665498, essv6763692, essv6750026, essv6898006, essv6752927, essv6975428, essv6747195, essv6742054, essv6916575, essv6949602, essv6741514
SamplesSSM024, SSM042, SSM057, SSM058, SSM021, SSM061, SSM029, SSM062, SSM066, SSM007, SSM078, SSM016, SSM053, SSM005, SSM010, SSM091, SSM055, SSM004, SSM099, SSM052, SSM049, SSM056, SSM063
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)esv2714188
Frequency
Sample Size96
Observed Gain0
Observed Loss23
Observed Complex0
Frequencyn/a


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