A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8675557



Internal ID15084162
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:22514248..22514257hg38UCSC Ensembl
Innerchr4:22514241..22514264hg38UCSC Ensembl
Outerchr4:22514232..22514273hg38UCSC Ensembl
chr4:22515871..22515880hg19UCSC Ensembl
Innerchr4:22515864..22515887hg19UCSC Ensembl
Outerchr4:22515855..22515896hg19UCSC Ensembl
chr4:22124969..22124978hg18UCSC Ensembl
Innerchr4:22124985..22124962hg18UCSC Ensembl
Outerchr4:22124953..22124994hg18UCSC Ensembl
Cytoband4p15.2
Allele length
AssemblyAllele length
hg38289
hg19289
hg18289
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3398780
Supporting Variants
SamplesNA19240
Known GenesGPR125
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8675557
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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