A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6729835



Internal ID9793646
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:248090615..248281052hg38UCSC Ensembl
Outerchr1:248253917..248444354hg19UCSC Ensembl
Cytoband1q44
Allele length
AssemblyAllele length
hg38190438
hg19190438
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2728006
Supporting Variants
SamplesSSM047
Known GenesOR2L13, OR2M1P, OR2M2, OR2M3, OR2M4, OR2M5, OR2T33
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)essv6729835
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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