A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6836264



Internal ID9986207
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr3:98140962..98183266hg38UCSC Ensembl
Outerchr3:97859806..97902110hg19UCSC Ensembl
Cytoband3q11.2
Allele length
AssemblyAllele length
hg3842305
hg1942305
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2725671, esv2725670, esv2725669
Supporting Variants
SamplesSSM002
Known GenesOR5H14, OR5H15
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)essv6836264
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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