A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3394445



Internal ID15241410
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:101643652..101643686hg38UCSC Ensembl
Innerchr14:101643601..101643737hg38UCSC Ensembl
Outerchr14:101643567..101643771hg38UCSC Ensembl
chr14:102109989..102110023hg19UCSC Ensembl
Innerchr14:102109938..102110074hg19UCSC Ensembl
Outerchr14:102109904..102110108hg19UCSC Ensembl
chr14:101179742..101179776hg18UCSC Ensembl
Innerchr14:101179827..101179691hg18UCSC Ensembl
Outerchr14:101179657..101179861hg18UCSC Ensembl
Cytoband14q32.31
Allele length
AssemblyAllele length
hg3851
hg1951
hg1851
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7865782
SamplesNA12005
Known Genes
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3394445
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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