A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8694418



Internal ID14697345
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:40814778..40816576hg38UCSC Ensembl
Innerchr4:40815576..40815778hg38UCSC Ensembl
Outerchr4:40813778..40817576hg38UCSC Ensembl
chr4:40816795..40818593hg19UCSC Ensembl
Innerchr4:40817593..40817795hg19UCSC Ensembl
Outerchr4:40815795..40819593hg19UCSC Ensembl
chr4:40511552..40513350hg18UCSC Ensembl
Innerchr4:40512552..40512350hg18UCSC Ensembl
Outerchr4:40510552..40514350hg18UCSC Ensembl
Cytoband4p14
Allele length
AssemblyAllele length
hg381799
hg191799
hg181799
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3348981
Supporting Variants
SamplesNA19239
Known GenesAPBB2
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8694418
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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