A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6770124



Internal ID10176594
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr3:98150210..98198155hg38UCSC Ensembl
Outerchr3:97869054..97916999hg19UCSC Ensembl
Cytoband3q11.2
Allele length
AssemblyAllele length
hg3847946
hg1947946
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2725670, esv2725672
Supporting Variants
SamplesSSM065
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)essv6770124
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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