A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6967809



Internal ID9724713
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr21:42570070..42570200hg38UCSC Ensembl
Outerchr21:43990180..43990310hg19UCSC Ensembl
Cytoband21q22.3
Allele length
AssemblyAllele length
hg38131
hg19131
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2723558, esv2723556
Supporting Variants
SamplesSSM027
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)essv6967809
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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