A curated catalogue of human genomic structural variation




Variant Details

Variant: essv10905474



Internal ID6504454
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:5007122..5008760hg38UCSC Ensembl
Innerchr3:5007131..5008752hg38UCSC Ensembl
Outerchr3:5007114..5008769hg38UCSC Ensembl
chr3:5048807..5050445hg19UCSC Ensembl
Innerchr3:5048816..5050437hg19UCSC Ensembl
Outerchr3:5048799..5050454hg19UCSC Ensembl
Cytoband3p26.1
Allele length
AssemblyAllele length
hg381639
hg191639
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3595119
Supporting Variants
SamplesNA20534
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv10905474
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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