A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3449945



Internal ID15296893
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:58652085..58653883hg38UCSC Ensembl
Innerchr3:58652883..58653085hg38UCSC Ensembl
Outerchr3:58651085..58654883hg38UCSC Ensembl
chr3:58637812..58639610hg19UCSC Ensembl
Innerchr3:58638610..58638812hg19UCSC Ensembl
Outerchr3:58636812..58640610hg19UCSC Ensembl
chr3:58612852..58614650hg18UCSC Ensembl
Innerchr3:58613852..58613650hg18UCSC Ensembl
Outerchr3:58611852..58615650hg18UCSC Ensembl
Cytoband3p14.2
Allele length
AssemblyAllele length
hg381799
hg191799
hg181799
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv8694110
SamplesNA19239
Known GenesFAM3D
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3449945
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