A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8692668



Internal ID15068953
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr21:15030760..15031958hg38UCSC Ensembl
Innerchr21:15030958..15031760hg38UCSC Ensembl
Outerchr21:15029760..15032958hg38UCSC Ensembl
chr21:16403081..16404279hg19UCSC Ensembl
Innerchr21:16403279..16404081hg19UCSC Ensembl
Outerchr21:16402081..16405279hg19UCSC Ensembl
chr21:15324952..15326150hg18UCSC Ensembl
Innerchr21:15325952..15325150hg18UCSC Ensembl
Outerchr21:15323952..15327150hg18UCSC Ensembl
Cytoband21q21.1
Allele length
AssemblyAllele length
hg381199
hg191199
hg181199
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3424748
Supporting Variants
SamplesNA19239
Known GenesNRIP1
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8692668
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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