A curated catalogue of human genomic structural variation




Variant Details

Variant: essv10905473



Internal ID2479236
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:5002157..5022436hg38UCSC Ensembl
Innerchr3:5002157..5022436hg38UCSC Ensembl
Outerchr3:5001657..5022936hg38UCSC Ensembl
chr3:5043842..5064121hg19UCSC Ensembl
Innerchr3:5043842..5064121hg19UCSC Ensembl
Outerchr3:5043342..5064621hg19UCSC Ensembl
Cytoband3p26.1
Allele length
AssemblyAllele length
hg3820280
hg1920280
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3595118
Supporting Variants
SamplesHG02184
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv10905473
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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