A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6851948



Internal ID10250234
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr16:1240054..1245233hg38UCSC Ensembl
Outerchr16:1290055..1295234hg19UCSC Ensembl
Cytoband16p13.3
Allele length
AssemblyAllele length
hg385180
hg195180
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2750309
Supporting Variants
SamplesSSM086
Known GenesTPSAB1
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)essv6851948
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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