A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6668004



Internal ID9738327
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr9:122725233..122750550hg38UCSC Ensembl
Outerchr9:125487512..125512829hg19UCSC Ensembl
Cytoband9q33.2
Allele length
AssemblyAllele length
hg3825318
hg1925318
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2739015
Supporting Variants
SamplesSSM030
Known GenesOR1L6
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)essv6668004
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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