A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6759112



Internal ID9822335
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:92826423..92827287hg38UCSC Ensembl
Outerchr1:93291980..93292844hg19UCSC Ensembl
Cytoband1p22.1
Allele length
AssemblyAllele length
hg38865
hg19865
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2714684, esv2714862
Supporting Variants
SamplesSSM061
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)essv6759112
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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