A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6699498



Internal ID10110842
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr21:8995543..8996743hg38UCSC Ensembl
Outerchr21:9834376..9835576hg19UCSC Ensembl
Cytoband21p11.2
Allele length
AssemblyAllele length
hg381201
hg191201
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2723024, esv2723012, esv2723019
Supporting Variants
SamplesSSM038
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)essv6699498
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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