A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3557786



Internal ID18412176
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr21:43550664..43553195hg38UCSC Ensembl
Outerchr21:43550373..43553487hg38UCSC Ensembl
Innerchr21:44970545..44973076hg19UCSC Ensembl
Outerchr21:44970254..44973368hg19UCSC Ensembl
Cytoband21q22.3
Allele length
AssemblyAllele length
hg383115
hg193115
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9756533
Samples
Known GenesHSF2BP
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceBoomsma_et_al_2014
Pubmed ID23714750
Accession Number(s)esv3557786
Frequency
Sample Size767
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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