A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8741129



Internal ID13641778
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:38243811..38243816hg38UCSC Ensembl
Innerchr4:38243810..38243817hg38UCSC Ensembl
Outerchr4:38243761..38243866hg38UCSC Ensembl
chr4:38245432..38245437hg19UCSC Ensembl
Innerchr4:38245431..38245438hg19UCSC Ensembl
Outerchr4:38245382..38245487hg19UCSC Ensembl
chr4:37921827..37921832hg18UCSC Ensembl
Innerchr4:37921833..37921826hg18UCSC Ensembl
Outerchr4:37921777..37921882hg18UCSC Ensembl
Cytoband4p14
Allele length
AssemblyAllele length
hg38258
hg19258
hg18258
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag0
Merged StatusS
Merged Variantsesv3446931
Supporting Variants
SamplesNA12878
Known Genes
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8741129
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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