A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3386287



Internal ID14886569
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:153263950..153265548hg38UCSC Ensembl
Innerchr4:153264548..153264950hg38UCSC Ensembl
Outerchr4:153262950..153266548hg38UCSC Ensembl
chr4:154185102..154186700hg19UCSC Ensembl
Innerchr4:154185700..154186102hg19UCSC Ensembl
Outerchr4:154184102..154187700hg19UCSC Ensembl
chr4:154404552..154406150hg18UCSC Ensembl
Innerchr4:154405552..154405150hg18UCSC Ensembl
Outerchr4:154403552..154407150hg18UCSC Ensembl
Cytoband4q31.3
Allele length
AssemblyAllele length
hg381599
hg191599
hg181599
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv8694256
SamplesNA19239
Known GenesTRIM2
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3386287
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer