A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8692682



Internal ID14766643
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr21:36539084..36540482hg38UCSC Ensembl
Innerchr21:36539482..36540084hg38UCSC Ensembl
Outerchr21:36538084..36541482hg38UCSC Ensembl
chr21:37911382..37912780hg19UCSC Ensembl
Innerchr21:37911780..37912382hg19UCSC Ensembl
Outerchr21:37910382..37913780hg19UCSC Ensembl
chr21:36833252..36834650hg18UCSC Ensembl
Innerchr21:36834252..36833650hg18UCSC Ensembl
Outerchr21:36832252..36835650hg18UCSC Ensembl
Cytoband21q22.13
Allele length
AssemblyAllele length
hg381399
hg191399
hg181399
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3384461
Supporting Variants
SamplesNA19240
Known GenesCLDN14
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8692682
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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