A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2746130



Internal ID10327100
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:30655230..30655361hg38UCSC Ensembl
Outerchr1:31128077..31128208hg19UCSC Ensembl
Cytoband1p35.2
Allele length
AssemblyAllele length
hg38132
hg19132
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6859206, essv6954769
SamplesSSM088, SSM026
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)esv2746130
Frequency
Sample Size96
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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