A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3395529



Internal ID15242493
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:99332462..99333260hg38UCSC Ensembl
Innerchr14:99332461..99333261hg38UCSC Ensembl
Outerchr14:99331462..99334260hg38UCSC Ensembl
chr14:99798799..99799597hg19UCSC Ensembl
Innerchr14:99798798..99799598hg19UCSC Ensembl
Outerchr14:99797799..99800597hg19UCSC Ensembl
chr14:98868552..98869350hg18UCSC Ensembl
Innerchr14:98869351..98868551hg18UCSC Ensembl
Outerchr14:98867552..98870350hg18UCSC Ensembl
Cytoband14q32.2
Allele length
AssemblyAllele length
hg38799
hg19799
hg18799
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1331e59
Supporting Variantsessv8689504
SamplesNA19240
Known Genes
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3395529
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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