A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6944440



Internal ID10053044
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr9:124341342..124341617hg38UCSC Ensembl
Outerchr9:127103621..127103896hg19UCSC Ensembl
Cytoband9q33.3
Allele length
AssemblyAllele length
hg38276
hg19276
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2739034
Supporting Variants
SamplesSSM023
Known GenesNEK6
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)essv6944440
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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