A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6868655



Internal ID9918584
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr21:42570148..42570203hg38UCSC Ensembl
Outerchr21:43990258..43990313hg19UCSC Ensembl
Cytoband21q22.3
Allele length
AssemblyAllele length
hg3856
hg1956
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2723559, esv2723560, esv2723556
Supporting Variants
SamplesSSM089
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)essv6868655
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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