A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6780234



Internal ID9839005
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr18:10757202..10757705hg38UCSC Ensembl
Outerchr18:10757200..10757703hg19UCSC Ensembl
Cytoband18p11.22
Allele length
AssemblyAllele length
hg38504
hg19504
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2716791
Supporting Variants
SamplesSSM067
Known GenesPIEZO2
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)essv6780234
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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