A curated catalogue of human genomic structural variation




Variant Details

Variant: essv10989211



Internal ID6091329
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:40411223..40420706hg38UCSC Ensembl
Innerchr3:40411373..40420556hg38UCSC Ensembl
Outerchr3:40411073..40420856hg38UCSC Ensembl
chr3:40452714..40462197hg19UCSC Ensembl
Innerchr3:40452864..40462047hg19UCSC Ensembl
Outerchr3:40452564..40462347hg19UCSC Ensembl
Cytoband3p22.1
Allele length
AssemblyAllele length
hg389484
hg199484
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3595950
Supporting Variants
SamplesNA19472
Known GenesENTPD3, ENTPD3-AS1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv10989211
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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