A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2714840



Internal ID9949125
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:92215760..92215835hg38UCSC Ensembl
Outerchr1:92681317..92681392hg19UCSC Ensembl
Cytoband1p22.1
Allele length
AssemblyAllele length
hg3876
hg1976
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6954860, essv6853344
SamplesSSM087, 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)esv2714840
Frequency
Sample Size96
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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