A curated catalogue of human genomic structural variation




Variant Details

Variant: esv1008565



Internal ID6720675
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr21:37650346..37658249hg38UCSC Ensembl
Outerchr21:39022648..39030551hg19UCSC Ensembl
Outerchr21:37944518..37952421hg18UCSC Ensembl
Cytoband21q22.13
Allele length
AssemblyAllele length
hg387904
hg197904
hg187904
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv3564595
SamplesHuRef
Known GenesKCNJ6
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferencePang_et_al_2010
Pubmed ID20482838
Accession Number(s)esv1008565
Frequency
Sample Size3
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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