A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6953906



Internal ID9991841
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:222895496..222897938hg38UCSC Ensembl
Outerchr2:223760214..223762656hg19UCSC Ensembl
Cytoband2q36.1
Allele length
AssemblyAllele length
hg382443
hg192443
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2721520
Supporting Variants
SamplesSSM004
Known GenesACSL3
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)essv6953906
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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