A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6722297



Internal ID10133549
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:48554730..48557722hg38UCSC Ensembl
Outerchr2:48781869..48784861hg19UCSC Ensembl
Cytoband2p16.3
Allele length
AssemblyAllele length
hg382993
hg192993
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2720033
Supporting Variants
SamplesSSM045
Known GenesSTON1, STON1-GTF2A1L
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)essv6722297
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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