A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8913689



Internal ID14370481
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:72405815..72405839hg38UCSC Ensembl
Innerchr3:72405816..72405836hg38UCSC Ensembl
Outerchr3:72405792..72405862hg38UCSC Ensembl
chr3:72454966..72454990hg19UCSC Ensembl
Innerchr3:72454967..72454987hg19UCSC Ensembl
Outerchr3:72454943..72455013hg19UCSC Ensembl
chr3:72537656..72537680hg18UCSC Ensembl
Innerchr3:72537677..72537657hg18UCSC Ensembl
Outerchr3:72537633..72537703hg18UCSC Ensembl
Cytoband3p13
Allele length
AssemblyAllele length
hg38124
hg19124
hg18124
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3325196
Supporting Variants
SamplesNA18861
Known GenesRYBP
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8913689
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