A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8692666



Internal ID15033238
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr21:13973860..13975258hg38UCSC Ensembl
Innerchr21:13974258..13974860hg38UCSC Ensembl
Outerchr21:13972860..13976258hg38UCSC Ensembl
chr21:15346181..15347579hg19UCSC Ensembl
Innerchr21:15346579..15347181hg19UCSC Ensembl
Outerchr21:15345181..15348579hg19UCSC Ensembl
chr21:14268052..14269450hg18UCSC Ensembl
Innerchr21:14269052..14268450hg18UCSC Ensembl
Outerchr21:14267052..14270450hg18UCSC Ensembl
Cytoband21q11.2
Allele length
AssemblyAllele length
hg381399
hg191399
hg181399
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3434603
Supporting Variants
SamplesNA19238
Known GenesANKRD20A11P
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8692666
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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