A curated catalogue of human genomic structural variation




Variant Details

Variant: essv11163786



Internal ID1165602
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:141058117..141059840hg38UCSC Ensembl
Innerchr3:141058117..141059840hg38UCSC Ensembl
Outerchr3:141057730..141060159hg38UCSC Ensembl
chr3:140776959..140778682hg19UCSC Ensembl
Innerchr3:140776959..140778682hg19UCSC Ensembl
Outerchr3:140776572..140779001hg19UCSC Ensembl
Cytoband3q23
Allele length
AssemblyAllele length
hg381724
hg191724
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3597970
Supporting Variants
SamplesNA06985
Known GenesSPSB4
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv11163786
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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