A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6933536



Internal ID9698580
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:247949199..248061187hg38UCSC Ensembl
Outerchr1:248112501..248224489hg19UCSC Ensembl
Cytoband1q44
Allele length
AssemblyAllele length
hg38111989
hg19111989
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2727929
Supporting Variants
SamplesSSM021
Known GenesOR2AK2, OR2L13, OR2L1P, OR2L2, OR2L3, OR2L5, OR2L8
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)essv6933536
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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