A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6756604



Internal ID9818170
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:91668500..91668771hg38UCSC Ensembl
Outerchr1:92134057..92134328hg19UCSC Ensembl
Cytoband1p22.1
Allele length
AssemblyAllele length
hg38272
hg19272
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2714762, esv2714684
Supporting Variants
SamplesSSM059
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)essv6756604
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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