A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6900978



Internal ID10293823
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr16:3469318..3469611hg38UCSC Ensembl
Outerchr16:3519318..3519611hg19UCSC Ensembl
Cytoband16p13.3
Allele length
AssemblyAllele length
hg38294
hg19294
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2750408, esv2750406, esv2750404, esv2750402
Supporting Variants
SamplesSSM100
Known GenesNAA60
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)essv6900978
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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