A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6909919



Internal ID10017611
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr21:9039256..9039397hg38UCSC Ensembl
Outerchr21:9878089..9878230hg19UCSC Ensembl
Cytoband21p11.2
Allele length
AssemblyAllele length
hg38142
hg19142
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2723037, esv2723012, esv2723019
Supporting Variants
SamplesSSM014
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)essv6909919
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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