A curated catalogue of human genomic structural variation




Variant Details

Variant: essv9756440



Internal ID18730686
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr21:37666905..37667761hg38UCSC Ensembl
Outerchr21:37666790..37667840hg38UCSC Ensembl
Innerchr21:39039207..39040063hg19UCSC Ensembl
Outerchr21:39039092..39040142hg19UCSC Ensembl
Cytoband21q22.13
Allele length
AssemblyAllele length
hg381051
hg191051
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3557693
Supporting Variants
Samples
Known GenesKCNJ6
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceBoomsma_et_al_2014
Pubmed ID23714750
Accession Number(s)essv9756440
Frequency
Sample Size767
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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