A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3398780



Internal ID15245743
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 StatusM
Merged Variants
Supporting Variantsessv8675558, essv8675557
SamplesNA19239, NA19240
Known GenesGPR125
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3398780
Frequency
Sample Size185
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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