A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2716793



Internal ID9951082
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr18:10915821..10915969hg38UCSC Ensembl
Outerchr18:10915819..10915967hg19UCSC Ensembl
Cytoband18p11.21
Allele length
AssemblyAllele length
hg38149
hg19149
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6852410
SamplesSSM086
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)esv2716793
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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