A curated catalogue of human genomic structural variation




Variant Details

Variant: essv7837177



Internal ID15038544
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:30385465..30385466hg38UCSC Ensembl
Innerchr14:30385434..30385497hg38UCSC Ensembl
Outerchr14:30385433..30385498hg38UCSC Ensembl
chr14:30854671..30854672hg19UCSC Ensembl
Innerchr14:30854640..30854703hg19UCSC Ensembl
Outerchr14:30854639..30854704hg19UCSC Ensembl
chr14:29924422..29924423hg18UCSC Ensembl
Innerchr14:29924454..29924391hg18UCSC Ensembl
Outerchr14:29924390..29924455hg18UCSC Ensembl
Cytoband14q12
Allele length
AssemblyAllele length
hg381220
hg191220
hg181220
Variant TypeCNV mobile element insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3307921
Supporting Variants
SamplesNA19239
Known Genes
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv7837177
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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