A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6828194



Internal ID10228857
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr16:20767246..20767527hg38UCSC Ensembl
Outerchr16:20778568..20778849hg19UCSC Ensembl
Cytoband16p12.3
Allele length
AssemblyAllele length
hg38282
hg19282
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2714064
Supporting Variants
SamplesSSM080
Known GenesACSM3
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)essv6828194
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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