A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8964696



Internal ID14161315
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:21858052..21858074hg38UCSC Ensembl
Innerchr14:21858060..21858064hg38UCSC Ensembl
Outerchr14:21858038..21858086hg38UCSC Ensembl
chr14:22326229..22326251hg19UCSC Ensembl
Innerchr14:22326237..22326241hg19UCSC Ensembl
Outerchr14:22326215..22326263hg19UCSC Ensembl
chr14:21396069..21396091hg18UCSC Ensembl
Innerchr14:21396081..21396077hg18UCSC Ensembl
Outerchr14:21396055..21396103hg18UCSC Ensembl
Cytoband14q11.2
Allele length
AssemblyAllele length
hg38271
hg19271
hg18271
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3356403
Supporting Variants
SamplesNA18571
Known Genes
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8964696
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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