A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2723553



Internal ID9957853
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr21:42569424..42569544hg38UCSC Ensembl
Outerchr21:43989534..43989654hg19UCSC Ensembl
Cytoband21q22.3
Allele length
AssemblyAllele length
hg38121
hg19121
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6859084, essv6967808, essv6666820
SamplesSSM027, SSM087, SSM029
Known GenesSLC37A1
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)esv2723553
Frequency
Sample Size96
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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