A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6735485



Internal ID10145052
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr16:1240110..1245037hg38UCSC Ensembl
Outerchr16:1290111..1295038hg19UCSC Ensembl
Cytoband16p13.3
Allele length
AssemblyAllele length
hg384928
hg194928
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2750305, esv2750309
Supporting Variants
SamplesSSM049
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)essv6735485
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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