A curated catalogue of human genomic structural variation




Variant Details

Variant: essv10918328



Internal ID920144
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:9980152..9982178hg38UCSC Ensembl
Innerchr3:9980202..9982128hg38UCSC Ensembl
Outerchr3:9980058..9982272hg38UCSC Ensembl
chr3:10021836..10023862hg19UCSC Ensembl
Innerchr3:10021886..10023812hg19UCSC Ensembl
Outerchr3:10021742..10023956hg19UCSC Ensembl
Cytoband3p25.3
Allele length
AssemblyAllele length
hg382027
hg192027
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3595256
Supporting Variants
SamplesNA18501
Known GenesEMC3
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv10918328
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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