A curated catalogue of human genomic structural variation




Variant Details

Variant: essv14984482



Internal ID872986
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:40592649..40961765hg38UCSC Ensembl
Innerchr14:40592742..40961672hg38UCSC Ensembl
Outerchr14:40592556..40961858hg38UCSC Ensembl
chr14:41061854..41430970hg19UCSC Ensembl
Innerchr14:41061947..41430877hg19UCSC Ensembl
Outerchr14:41061761..41431063hg19UCSC Ensembl
Cytoband14q21.1
Allele length
AssemblyAllele length
hg38369117
hg19369117
Variant TypeOTHER inversion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3634179
Supporting Variants
SamplesHG00463
Known GenesLOC644919
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv14984482
Frequency
Sample Size2504
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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