A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3441227



Internal ID15288180
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:102056562..102057860hg38UCSC Ensembl
Innerchr14:102056860..102057562hg38UCSC Ensembl
Outerchr14:102055562..102058860hg38UCSC Ensembl
chr14:102522899..102524197hg19UCSC Ensembl
Innerchr14:102523197..102523899hg19UCSC Ensembl
Outerchr14:102521899..102525197hg19UCSC Ensembl
chr14:101592652..101593950hg18UCSC Ensembl
Innerchr14:101593652..101592950hg18UCSC Ensembl
Outerchr14:101591652..101594950hg18UCSC Ensembl
Cytoband14q32.31
Allele length
AssemblyAllele length
hg381299
hg191299
hg181299
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv8689017
SamplesNA19240
Known Genes
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3441227
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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