A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3308000



Internal ID15154948
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:55971170..55971171hg38UCSC Ensembl
Innerchr14:55971134..55971207hg38UCSC Ensembl
Outerchr14:55971133..55971208hg38UCSC Ensembl
chr14:56437888..56437889hg19UCSC Ensembl
Innerchr14:56437852..56437925hg19UCSC Ensembl
Outerchr14:56437851..56437926hg19UCSC Ensembl
chr14:55507641..55507642hg18UCSC Ensembl
Innerchr14:55507678..55507605hg18UCSC Ensembl
Outerchr14:55507604..55507679hg18UCSC Ensembl
Cytoband14q22.3
Allele length
AssemblyAllele length
hg38200
hg19200
hg18200
Variant TypeCNV mobile element insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7837236, essv7838778
SamplesNA19238, NA19240
Known Genes
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3308000
Frequency
Sample Size185
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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