A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6928311



Internal ID9690877
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr16:3054440..3054798hg38UCSC Ensembl
Outerchr16:3104441..3104799hg19UCSC Ensembl
Cytoband16p13.3
Allele length
AssemblyAllele length
hg38359
hg19359
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2750393, esv2750390, esv2750391
Supporting Variants
SamplesSSM019
Known GenesMMP25
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)essv6928311
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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