A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3557827



Internal ID18412217
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr21:44950998..44951997hg38UCSC Ensembl
Outerchr21:44950946..44952134hg38UCSC Ensembl
Innerchr21:46370913..46371912hg19UCSC Ensembl
Outerchr21:46370861..46372049hg19UCSC Ensembl
Cytoband21q22.3
Allele length
AssemblyAllele length
hg381189
hg191189
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9756574
Samples
Known GenesFAM207A
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceBoomsma_et_al_2014
Pubmed ID23714750
Accession Number(s)esv3557827
Frequency
Sample Size767
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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