A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8692684



Internal ID15069015
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr21:38913558..38914756hg38UCSC Ensembl
Innerchr21:38913756..38914558hg38UCSC Ensembl
Outerchr21:38912558..38915756hg38UCSC Ensembl
chr21:40285482..40286680hg19UCSC Ensembl
Innerchr21:40285680..40286482hg19UCSC Ensembl
Outerchr21:40284482..40287680hg19UCSC Ensembl
chr21:39207352..39208550hg18UCSC Ensembl
Innerchr21:39208352..39207550hg18UCSC Ensembl
Outerchr21:39206352..39209550hg18UCSC Ensembl
Cytoband21q22.2
Allele length
AssemblyAllele length
hg381199
hg191199
hg181199
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3422109
Supporting Variants
SamplesNA19239
Known Genes
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8692684
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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