A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3339161



Internal ID14839431
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr21:14280535..14280547hg38UCSC Ensembl
Innerchr21:14280526..14280553hg38UCSC Ensembl
Outerchr21:14280517..14280565hg38UCSC Ensembl
chr21:15652856..15652868hg19UCSC Ensembl
Innerchr21:15652847..15652874hg19UCSC Ensembl
Outerchr21:15652838..15652886hg19UCSC Ensembl
chr21:14574727..14574739hg18UCSC Ensembl
Innerchr21:14574745..14574718hg18UCSC Ensembl
Outerchr21:14574709..14574757hg18UCSC Ensembl
Cytoband21q11.2
Allele length
AssemblyAllele length
hg38231
hg19231
hg18231
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv8976393, essv8976379, essv8976386, essv8976374, essv8976385, essv8976389, essv8976383, essv8976373, essv8976390, essv8976377, essv8976378, essv8976388, essv8976371, essv8976391, essv8976372, essv8976375, essv8976382, essv8976384, essv8976369, essv8976376, essv8976368, essv8976380, essv8976367, essv8976387
SamplesNA11881, NA12154, NA12043, NA07347, NA18520, NA18561, NA10847, NA19147, NA18912, NA12004, NA11994, NA11831, NA11894, NA12144, NA12751, NA07346, NA10851, NA18552, NA12156, NA12003, NA18499, NA18571, NA12717, NA07000
Known GenesABCC13
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3339161
Frequency
Sample Size185
Observed Gain24
Observed Loss0
Observed Complex0
Frequencyn/a


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