A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6895157



Internal ID10289122
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr16:46383536..46466072hg38UCSC Ensembl
Outerchr16:46417448..46499984hg19UCSC Ensembl
Cytoband16q11.2
Allele length
AssemblyAllele length
hg3882537
hg1982537
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2714399, esv2714391, esv2714384, esv2714397
Supporting Variants
SamplesSSM098
Known Genes
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)essv6895157
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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