A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8693622



Internal ID15037225
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:3109673..3111171hg38UCSC Ensembl
Innerchr2:3110171..3110673hg38UCSC Ensembl
Outerchr2:3108673..3112171hg38UCSC Ensembl
chr2:3113445..3114943hg19UCSC Ensembl
Innerchr2:3113943..3114445hg19UCSC Ensembl
Outerchr2:3112445..3115943hg19UCSC Ensembl
chr2:3092452..3093950hg18UCSC Ensembl
Innerchr2:3093452..3092950hg18UCSC Ensembl
Outerchr2:3091452..3094950hg18UCSC Ensembl
Cytoband2p25.3
Allele length
AssemblyAllele length
hg381499
hg191499
hg181499
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3425840
Supporting Variants
SamplesNA19239
Known Genes
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8693622
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