A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6714731



Internal ID10126739
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:241668851..241669354hg38UCSC Ensembl
Outerchr2:242608266..242608769hg19UCSC Ensembl
Cytoband2q37.3
Allele length
AssemblyAllele length
hg38504
hg19504
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2722014
Supporting Variants
SamplesSSM043
Known GenesATG4B
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)essv6714731
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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