A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2714442



Internal ID10298078
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr16:48966507..48967345hg38UCSC Ensembl
Outerchr16:49000418..49001256hg19UCSC Ensembl
Cytoband16q12.1
Allele length
AssemblyAllele length
hg38839
hg19839
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6960213, essv6885446, essv6706696, essv6966689, essv6665559, essv6846378, essv6920783, essv6858056, essv6835416, essv6831849, essv6838575, essv6932464, essv6936769, essv6753930, essv6784169, essv6971413, essv6674070, essv6913160, essv6752943, essv6758580
SamplesSSM059, SSM027, SSM087, SSM057, SSM028, SSM021, SSM029, SSM026, SSM017, SSM031, SSM001, SSM085, SSM068, SSM081, SSM040, SSM082, SSM020, SSM015, SSM010, SSM095
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)esv2714442
Frequency
Sample Size96
Observed Gain0
Observed Loss20
Observed Complex0
Frequencyn/a


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