A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2721979



Internal ID9956277
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:241115779..241116180hg38UCSC Ensembl
Outerchr2:242055194..242055595hg19UCSC Ensembl
Cytoband2q37.3
Allele length
AssemblyAllele length
hg38402
hg19402
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv644e201
Supporting Variantsessv6947003, essv6693334, essv6726330, essv6781412, essv6929622, essv6777431, essv6718624
SamplesSSM024, SSM046, SSM067, SSM044, SSM068, SSM020, SSM037
Known GenesPASK
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)esv2721979
Frequency
Sample Size96
Observed Gain0
Observed Loss7
Observed Complex0
Frequencyn/a


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