A curated catalogue of human genomic structural variation




Variant Details

Variant: essv11257573



Internal ID3350484
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:184697851..184710122hg38UCSC Ensembl
Innerchr3:184697871..184710103hg38UCSC Ensembl
Outerchr3:184697832..184710142hg38UCSC Ensembl
chr3:184415639..184427910hg19UCSC Ensembl
Innerchr3:184415659..184427891hg19UCSC Ensembl
Outerchr3:184415620..184427930hg19UCSC Ensembl
Cytoband3q27.1
Allele length
AssemblyAllele length
hg3812272
hg1912272
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3598955
Supporting Variants
SamplesHG03006
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv11257573
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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