A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2746230



Internal ID10327200
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:30795501..30795881hg38UCSC Ensembl
Outerchr1:31268348..31268728hg19UCSC Ensembl
Cytoband1p35.2
Allele length
AssemblyAllele length
hg38381
hg19381
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6946513, essv6797468, essv6689278, essv6950385, essv6793311, essv6836203
SamplesSSM036, SSM083, SSM071, SSM024, SSM072, SSM004
Known Genes
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)esv2746230
Frequency
Sample Size96
Observed Gain0
Observed Loss6
Observed Complex0
Frequencyn/a


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