A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6742591



Internal ID9805363
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr3:111073941..111077575hg38UCSC Ensembl
Outerchr3:110792788..110796422hg19UCSC Ensembl
Cytoband3q13.13
Allele length
AssemblyAllele length
hg383635
hg193635
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2725772
Supporting Variants
SamplesSSM053
Known GenesPVRL3
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)essv6742591
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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