A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6742534



Internal ID9805415
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr3:14154615..14155437hg38UCSC Ensembl
Outerchr3:14196115..14196937hg19UCSC Ensembl
Cytoband3p25.1
Allele length
AssemblyAllele length
hg38823
hg19823
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2724952, esv2724945
Supporting Variants
SamplesSSM053
Known GenesXPC
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)essv6742534
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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