A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6725269



Internal ID9789536
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr18:10757254..10757723hg38UCSC Ensembl
Outerchr18:10757252..10757721hg19UCSC Ensembl
Cytoband18p11.22
Allele length
AssemblyAllele length
hg38470
hg19470
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2716791
Supporting Variants
SamplesSSM045
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)essv6725269
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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