A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6824845



Internal ID10225842
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr21:10760316..10762430hg38UCSC Ensembl
Outerchr21:10750027..10752141hg19UCSC Ensembl
Cytoband21p11.2
Allele length
AssemblyAllele length
hg382115
hg192115
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2723112, esv2723108, esv2723094, esv2723119, esv2723110, esv2723122
Supporting Variants
SamplesSSM079
Known Genes
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)essv6824845
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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