A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3429228



Internal ID14929498
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:62574334..62574348hg38UCSC Ensembl
Innerchr3:62574325..62574355hg38UCSC Ensembl
Outerchr3:62574311..62574369hg38UCSC Ensembl
chr3:62560009..62560023hg19UCSC Ensembl
Innerchr3:62560000..62560030hg19UCSC Ensembl
Outerchr3:62559986..62560044hg19UCSC Ensembl
chr3:62535049..62535063hg18UCSC Ensembl
Innerchr3:62535070..62535040hg18UCSC Ensembl
Outerchr3:62535026..62535084hg18UCSC Ensembl
Cytoband3p14.2
Allele length
AssemblyAllele length
hg38227
hg19227
hg18227
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv8675228, essv8675229
SamplesNA19238, NA19240
Known GenesCADPS
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3429228
Frequency
Sample Size185
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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