A curated catalogue of human genomic structural variation




Variant Details

Variant: essv9619059



Internal ID12843726
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:165708931..165708950hg38UCSC Ensembl
Innerchr4:165708927..165708954hg38UCSC Ensembl
Outerchr4:165708908..165708973hg38UCSC Ensembl
chr4:166630083..166630102hg19UCSC Ensembl
Innerchr4:166630079..166630106hg19UCSC Ensembl
Outerchr4:166630060..166630125hg19UCSC Ensembl
chr4:166849533..166849552hg18UCSC Ensembl
Innerchr4:166849556..166849529hg18UCSC Ensembl
Outerchr4:166849510..166849575hg18UCSC Ensembl
Cytoband4q32.3
Allele length
AssemblyAllele length
hg38300
hg19300
hg18300
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3433232
Supporting Variants
SamplesNA11918
Known Genes
MethodSequencing
Analysis
Platform454
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv9619059
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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