A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6954860



Internal ID9717060
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:92215761..92215835hg38UCSC Ensembl
Outerchr1:92681318..92681392hg19UCSC Ensembl
Cytoband1p22.1
Allele length
AssemblyAllele length
hg3875
hg1975
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2714818, esv2714829, esv2714684, esv2714840
Supporting Variants
SamplesSSM026
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)essv6954860
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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