A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6756703



Internal ID9817688
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:247991189..248039120hg38UCSC Ensembl
Outerchr1:248154491..248202422hg19UCSC Ensembl
Cytoband1q44
Allele length
AssemblyAllele length
hg3847932
hg1947932
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2727940, esv2727962, esv2727929
Supporting Variants
SamplesSSM059
Known GenesOR2L13, OR2L1P, OR2L2, OR2L5
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)essv6756703
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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