A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6695098



Internal ID9993867
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr21:10779755..10779999hg38UCSC Ensembl
Outerchr21:10732458..10732702hg19UCSC Ensembl
Cytoband21p11.2
Allele length
AssemblyAllele length
hg38245
hg19245
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2723113, esv2723112, esv2723108, esv2723094, esv2723110
Supporting Variants
SamplesSSM005
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)essv6695098
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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