A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2715127



Internal ID9949413
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr16:89195778..89196655hg38UCSC Ensembl
Outerchr16:89262186..89263063hg19UCSC Ensembl
Cytoband16q24.3
Allele length
AssemblyAllele length
hg38878
hg19878
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6971477, essv6761389, essv6858139, essv6758620, essv6953897, essv6717411, essv6756004, essv6936836, essv6668501, essv6752985, essv6913216, essv6885480, essv6772693, essv6682160, essv6852155, essv6738301, essv6744425, essv6747255, essv6960304, essv6901873, essv6741573, essv6665670, essv6920847
SamplesSSM059, SSM065, SSM087, SSM050, SSM057, SSM058, SSM028, SSM021, SSM061, SSM029, SSM026, SSM017, SSM086, SSM033, SSM015, SSM053, SSM055, SSM095, SSM025, SSM043, SSM052, SSM030, SSM012
Known GenesSLC22A31
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)esv2715127
Frequency
Sample Size96
Observed Gain0
Observed Loss23
Observed Complex0
Frequencyn/a


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