A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2714446



Internal ID10298082
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr16:49002183..49002277hg38UCSC Ensembl
Outerchr16:49036094..49036188hg19UCSC Ensembl
Cytoband16q12.1
Allele length
AssemblyAllele length
hg3895
hg1995
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6960214, essv6867853, essv6674071, essv6820316, essv6966690, essv6852072, essv6863055, essv6909426, essv6858057
SamplesSSM027, SSM087, SSM088, SSM026, SSM089, SSM031, SSM014, SSM086, SSM078
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)esv2714446
Frequency
Sample Size96
Observed Gain0
Observed Loss9
Observed Complex0
Frequencyn/a


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