A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6857952



Internal ID9908955
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr16:1507792..1507884hg38UCSC Ensembl
Outerchr16:1557793..1557885hg19UCSC Ensembl
Cytoband16p13.3
Allele length
AssemblyAllele length
hg3893
hg1993
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2750345, esv2750346
Supporting Variants
SamplesSSM087
Known GenesTELO2
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)essv6857952
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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