A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6906012



Internal ID9669776
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr21:16924968..16925460hg38UCSC Ensembl
Outerchr21:18297288..18297780hg19UCSC Ensembl
Cytoband21q21.1
Allele length
AssemblyAllele length
hg38493
hg19493
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2723194, esv2723192, esv2723196
Supporting Variants
SamplesSSM013
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)essv6906012
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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