A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6858126



Internal ID9909112
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr16:88771925..88772031hg38UCSC Ensembl
Outerchr16:88838333..88838439hg19UCSC Ensembl
Cytoband16q24.3
Allele length
AssemblyAllele length
hg38107
hg19107
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2715037
Supporting Variants
SamplesSSM087
Known GenesPIEZO1
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)essv6858126
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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