A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2714211



Internal ID10297847
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr16:32507980..32508671hg38UCSC Ensembl
Outerchr16:32519301..32519992hg19UCSC Ensembl
Cytoband16p11.2
Allele length
AssemblyAllele length
hg38692
hg19692
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6940860, essv6874044
SamplesSSM022, SSM091
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)esv2714211
Frequency
Sample Size96
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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