A curated catalogue of human genomic structural variation




Variant Details

Variant: essv11187547



Internal ID1189363
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:152247201..152252117hg38UCSC Ensembl
Innerchr3:152247236..152252082hg38UCSC Ensembl
Outerchr3:152247166..152252152hg38UCSC Ensembl
chr3:151964990..151969906hg19UCSC Ensembl
Innerchr3:151965025..151969871hg19UCSC Ensembl
Outerchr3:151964955..151969941hg19UCSC Ensembl
Cytoband3q25.1
Allele length
AssemblyAllele length
hg384917
hg194917
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3598202
Supporting Variants
SamplesNA20819
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv11187547
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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