A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6859084



Internal ID9909974
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr21:42569431..42569525hg38UCSC Ensembl
Outerchr21:43989541..43989635hg19UCSC Ensembl
Cytoband21q22.3
Allele length
AssemblyAllele length
hg3895
hg1995
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2723553, esv2723552
Supporting Variants
SamplesSSM087
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)essv6859084
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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