A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2714173



Internal ID10297809
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr16:29141800..29142227hg38UCSC Ensembl
Outerchr16:29153121..29153548hg19UCSC Ensembl
Cytoband16p11.2
Allele length
AssemblyAllele length
hg38428
hg19428
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6665497, essv6932382, essv6920742, essv6852010, essv6928337, essv6792357, essv6828205
SamplesSSM029, SSM017, SSM019, SSM086, SSM020, SSM080, SSM070
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)esv2714173
Frequency
Sample Size96
Observed Gain0
Observed Loss7
Observed Complex0
Frequencyn/a


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