A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6932355



Internal ID10038746
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr16:3469198..3469435hg38UCSC Ensembl
Outerchr16:3519198..3519435hg19UCSC Ensembl
Cytoband16p13.3
Allele length
AssemblyAllele length
hg38238
hg19238
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2750403, esv2750404, esv2750402
Supporting Variants
SamplesSSM020
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)essv6932355
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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