A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3557616



Internal ID18412006
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr21:29763887..29766862hg38UCSC Ensembl
Outerchr21:29763880..29766885hg38UCSC Ensembl
Innerchr21:31136206..31139181hg19UCSC Ensembl
Outerchr21:31136199..31139204hg19UCSC Ensembl
Cytoband21q21.3
Allele length
AssemblyAllele length
hg383006
hg193006
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9756363
Samples
Known GenesGRIK1, GRIK1-AS1
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceBoomsma_et_al_2014
Pubmed ID23714750
Accession Number(s)esv3557616
Frequency
Sample Size767
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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