A curated catalogue of human genomic structural variation




Variant Details

Variant: essv11054372



Internal ID5989246
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:81505405..81512390hg38UCSC Ensembl
Innerchr3:81505405..81512390hg38UCSC Ensembl
Outerchr3:81505353..81512501hg38UCSC Ensembl
chr3:81554556..81561541hg19UCSC Ensembl
Innerchr3:81554556..81561541hg19UCSC Ensembl
Outerchr3:81554504..81561652hg19UCSC Ensembl
Cytoband3p12.2
Allele length
AssemblyAllele length
hg386986
hg196986
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3596748
Supporting Variants
SamplesNA19393
Known GenesGBE1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv11054372
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