A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6853112



Internal ID9904596
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr21:42258028..42258130hg38UCSC Ensembl
Outerchr21:43678138..43678240hg19UCSC Ensembl
Cytoband21q22.3
Allele length
AssemblyAllele length
hg38103
hg19103
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2723540, esv2723538
Supporting Variants
SamplesSSM086
Known GenesABCG1
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)essv6853112
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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