A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6917911



Internal ID9681712
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:230295562..230394815hg38UCSC Ensembl
Outerchr2:231160277..231259530hg19UCSC Ensembl
Cytoband2q37.1
Allele length
AssemblyAllele length
hg3899254
hg1999254
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2721594
Supporting Variants
SamplesSSM017
Known GenesSP140, SP140L
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)essv6917911
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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