A curated catalogue of human genomic structural variation




Variant Details

Variant: essv11287480



Internal ID3303542
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:195034172..195034875hg38UCSC Ensembl
Innerchr3:195034172..195034875hg38UCSC Ensembl
Outerchr3:195033881..195035124hg38UCSC Ensembl
chr3:194754901..194755604hg19UCSC Ensembl
Innerchr3:194754901..194755604hg19UCSC Ensembl
Outerchr3:194754610..194755853hg19UCSC Ensembl
Cytoband3q29
Allele length
AssemblyAllele length
hg38704
hg19704
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3599229
Supporting Variants
SamplesHG02944
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv11287480
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