A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8694417



Internal ID14697419
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:40339978..40342276hg38UCSC Ensembl
Innerchr4:40340978..40341276hg38UCSC Ensembl
Outerchr4:40338978..40343276hg38UCSC Ensembl
chr4:40341995..40344293hg19UCSC Ensembl
Innerchr4:40342995..40343293hg19UCSC Ensembl
Outerchr4:40340995..40345293hg19UCSC Ensembl
chr4:40036752..40039050hg18UCSC Ensembl
Innerchr4:40037752..40038050hg18UCSC Ensembl
Outerchr4:40035752..40040050hg18UCSC Ensembl
Cytoband4p14
Allele length
AssemblyAllele length
hg382299
hg192299
hg182299
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3330900
Supporting Variants
SamplesNA19239
Known GenesCHRNA9
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8694417
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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