A curated catalogue of human genomic structural variation




Variant Details

Variant: essv11015019



Internal ID1016835
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:53847367..53852855hg38UCSC Ensembl
Innerchr3:53847373..53852850hg38UCSC Ensembl
Outerchr3:53847362..53852861hg38UCSC Ensembl
chr3:53881394..53886882hg19UCSC Ensembl
Innerchr3:53881400..53886877hg19UCSC Ensembl
Outerchr3:53881389..53886888hg19UCSC Ensembl
Cytoband3p21.1
Allele length
AssemblyAllele length
hg385489
hg195489
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3596173
Supporting Variants
SamplesHG01757
Known GenesIL17RB
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv11015019
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