A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8689500



Internal ID15093694
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:95257762..95259960hg38UCSC Ensembl
Innerchr14:95258762..95258960hg38UCSC Ensembl
Outerchr14:95256762..95260960hg38UCSC Ensembl
chr14:95724099..95726297hg19UCSC Ensembl
Innerchr14:95725099..95725297hg19UCSC Ensembl
Outerchr14:95723099..95727297hg19UCSC Ensembl
chr14:94793852..94796050hg18UCSC Ensembl
Innerchr14:94794852..94795050hg18UCSC Ensembl
Outerchr14:94792852..94797050hg18UCSC Ensembl
Cytoband14q32.13
Allele length
AssemblyAllele length
hg382199
hg192199
hg182199
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3355880
Supporting Variants
SamplesNA19240
Known GenesCLMN
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8689500
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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