A curated catalogue of human genomic structural variation




Variant Details

Variant: essv11287983



Internal ID5661285
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:195465186..195466751hg38UCSC Ensembl
Innerchr3:195465186..195466751hg38UCSC Ensembl
Outerchr3:195465009..195466902hg38UCSC Ensembl
chr3:195185904..195187470hg19UCSC Ensembl
Innerchr3:195185904..195187470hg19UCSC Ensembl
Outerchr3:195185727..195187621hg19UCSC Ensembl
Cytoband3q29
Allele length
AssemblyAllele length
hg381566
hg191567
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3599237
Supporting Variants
SamplesNA19072
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv11287983
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