A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6852410



Internal ID9903964
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 StatusS
Merged Variantsesv2716792, esv2716793
Supporting Variants
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)essv6852410
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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