A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2723558



Internal ID9957858
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr21:42570070..42570259hg38UCSC Ensembl
Outerchr21:43990180..43990369hg19UCSC Ensembl
Cytoband21q22.3
Allele length
AssemblyAllele length
hg38190
hg19190
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6699530, essv6816176, essv6967809
SamplesSSM027, SSM009, SSM038
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)esv2723558
Frequency
Sample Size96
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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