A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6722475



Internal ID10133710
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:241471870..241472207hg38UCSC Ensembl
Outerchr2:242411285..242411622hg19UCSC Ensembl
Cytoband2q37.3
Allele length
AssemblyAllele length
hg38338
hg19338
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2722000
Supporting Variants
SamplesSSM045
Known GenesFARP2
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)essv6722475
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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