A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3441210



Internal ID15288163
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:38274884..38274938hg38UCSC Ensembl
Innerchr14:38274908..38274912hg38UCSC Ensembl
Outerchr14:38274854..38274968hg38UCSC Ensembl
chr14:38744089..38744143hg19UCSC Ensembl
Innerchr14:38744113..38744117hg19UCSC Ensembl
Outerchr14:38744059..38744173hg19UCSC Ensembl
chr14:37813840..37813894hg18UCSC Ensembl
Innerchr14:37813868..37813864hg18UCSC Ensembl
Outerchr14:37813810..37813924hg18UCSC Ensembl
Cytoband14q21.1
Allele length
AssemblyAllele length
hg38197
hg19197
hg18197
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv8965168, essv8965169, essv8965172, essv8965171, essv8965167
SamplesNA12045, NA07347, NA12287, NA12761, NA07000
Known Genes
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3441210
Frequency
Sample Size185
Observed Gain5
Observed Loss0
Observed Complex0
Frequencyn/a


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