A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6776666



Internal ID9653387
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr16:29425522..29527420hg38UCSC Ensembl
Outerchr16:29436843..29538741hg19UCSC Ensembl
Cytoband16p11.2
Allele length
AssemblyAllele length
hg38101899
hg19101899
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2714183
Supporting Variants
SamplesSSM008
Known GenesBOLA2, BOLA2B, LOC388242, LOC606724, LOC613038, SLX1A, SLX1A-SULT1A3, SLX1B, SLX1B-SULT1A4, SULT1A3, SULT1A4
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)essv6776666
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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