A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3330601



Internal ID14830878
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr21:14980604..14980623hg38UCSC Ensembl
Innerchr21:14980600..14980627hg38UCSC Ensembl
Outerchr21:14980581..14980646hg38UCSC Ensembl
chr21:16352925..16352944hg19UCSC Ensembl
Innerchr21:16352921..16352948hg19UCSC Ensembl
Outerchr21:16352902..16352967hg19UCSC Ensembl
chr21:15274796..15274815hg18UCSC Ensembl
Innerchr21:15274819..15274792hg18UCSC Ensembl
Outerchr21:15274773..15274838hg18UCSC Ensembl
Cytoband21q11.2
Allele length
AssemblyAllele length
hg38300
hg19300
hg18300
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9679680, essv9679669
SamplesNA12872, NA12249
Known GenesNRIP1
MethodSequencing
Analysis
Platform454
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3330601
Frequency
Sample Size185
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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