A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3646941



Internal ID7033683
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr21:35350859..35351354hg38UCSC Ensembl
Innerchr21:35350875..35351338hg38UCSC Ensembl
Outerchr21:35350843..35351370hg38UCSC Ensembl
chr21:36723157..36723652hg19UCSC Ensembl
Innerchr21:36723173..36723636hg19UCSC Ensembl
Outerchr21:36723141..36723668hg19UCSC Ensembl
Cytoband21q22.12
Allele length
AssemblyAllele length
hg38496
hg19496
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv16315009, essv16315010, essv16315008, essv16315007
SamplesHG00449, HG02067, HG02402, HG02121
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3646941
Frequency
Sample Size2504
Observed Gain0
Observed Loss4
Observed Complex0
Frequencyn/a


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