A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8964875



Internal ID13304352
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:30385453..30385487hg38UCSC Ensembl
Innerchr14:30385466..30385471hg38UCSC Ensembl
Outerchr14:30385435..30385505hg38UCSC Ensembl
chr14:30854659..30854693hg19UCSC Ensembl
Innerchr14:30854672..30854677hg19UCSC Ensembl
Outerchr14:30854641..30854711hg19UCSC Ensembl
chr14:29924410..29924444hg18UCSC Ensembl
Innerchr14:29924428..29924423hg18UCSC Ensembl
Outerchr14:29924392..29924462hg18UCSC Ensembl
Cytoband14q12
Allele length
AssemblyAllele length
hg381159
hg191159
hg181159
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3340391
Supporting Variants
SamplesNA12004
Known Genes
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8964875
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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