A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3596243



Internal ID6983560
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:58286215..58287330hg38UCSC Ensembl
Innerchr3:58286232..58287313hg38UCSC Ensembl
Outerchr3:58286198..58287347hg38UCSC Ensembl
chr3:58271942..58273057hg19UCSC Ensembl
Innerchr3:58271959..58273040hg19UCSC Ensembl
Outerchr3:58271925..58273074hg19UCSC Ensembl
Cytoband3p14.3
Allele length
AssemblyAllele length
hg381116
hg191116
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv11021420, essv11021421
SamplesHG00257, HG00256
Known GenesABHD6
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3596243
Frequency
Sample Size2504
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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