A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3367552



Internal ID14867811
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr21:10325278..10501876hg38UCSC Ensembl
Innerchr21:10326278..10500876hg38UCSC Ensembl
Outerchr21:10324328..10502876hg38UCSC Ensembl
chr21:11010581..11187179hg19UCSC Ensembl
Innerchr21:11011581..11186179hg19UCSC Ensembl
Outerchr21:11009581..11188129hg19UCSC Ensembl
chr21:10032452..10209050hg18UCSC Ensembl
Innerchr21:10033452..10208050hg18UCSC Ensembl
Outerchr21:10031452..10210050hg18UCSC Ensembl
Cytoband21p11.1
Allele length
AssemblyAllele length
hg38176599
hg19176599
hg18176599
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv2468e59
Supporting Variantsessv8692638
SamplesNA19238
Known GenesBAGE, BAGE2, BAGE3, BAGE4, BAGE5
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3367552
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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