A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6792505



Internal ID9849781
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr16:89648495..89648971hg38UCSC Ensembl
Outerchr16:89714903..89715379hg19UCSC Ensembl
Cytoband16q24.3
Allele length
AssemblyAllele length
hg38477
hg19477
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2715190
Supporting Variants
SamplesSSM070
Known GenesCHMP1A
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)essv6792505
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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