A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8689501



Internal ID15093691
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:97181062..97182360hg38UCSC Ensembl
Innerchr14:97181360..97182062hg38UCSC Ensembl
Outerchr14:97180062..97183360hg38UCSC Ensembl
chr14:97647399..97648697hg19UCSC Ensembl
Innerchr14:97647697..97648399hg19UCSC Ensembl
Outerchr14:97646399..97649697hg19UCSC Ensembl
chr14:96717152..96718450hg18UCSC Ensembl
Innerchr14:96718152..96717450hg18UCSC Ensembl
Outerchr14:96716152..96719450hg18UCSC Ensembl
Cytoband14q32.2
Allele length
AssemblyAllele length
hg381299
hg191299
hg181299
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3384590
Supporting Variants
SamplesNA19240
Known Genes
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8689501
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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