A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6901004



Internal ID10293799
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr16:32520986..32522446hg38UCSC Ensembl
Outerchr16:32532307..32533767hg19UCSC Ensembl
Cytoband16p11.2
Allele length
AssemblyAllele length
hg381461
hg191461
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2714208, esv2714206, esv2714204, esv2714201, esv2714219
Supporting Variants
SamplesSSM100
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)essv6901004
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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