A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2720445



Internal ID10304081
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:100953033..100953334hg38UCSC Ensembl
Outerchr2:101569495..101569796hg19UCSC Ensembl
Cytoband2q11.2
Allele length
AssemblyAllele length
hg38302
hg19302
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6883508, essv6816986, essv6704167
SamplesSSM040, SSM078, SSM095
Known GenesNPAS2
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)esv2720445
Frequency
Sample Size96
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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