A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8674340



Internal ID15036140
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr21:41271202..41271234hg38UCSC Ensembl
Innerchr21:41271211..41271223hg38UCSC Ensembl
Outerchr21:41271179..41271257hg38UCSC Ensembl
chr21:42643129..42643161hg19UCSC Ensembl
Innerchr21:42643138..42643150hg19UCSC Ensembl
Outerchr21:42643106..42643184hg19UCSC Ensembl
chr21:41564999..41565031hg18UCSC Ensembl
Innerchr21:41565020..41565008hg18UCSC Ensembl
Outerchr21:41564976..41565054hg18UCSC Ensembl
Cytoband21q22.3
Allele length
AssemblyAllele length
hg38224
hg19224
hg18224
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3410618
Supporting Variants
SamplesNA19238
Known GenesBACE2
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8674340
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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