A curated catalogue of human genomic structural variation




Variant Details

Variant: essv11272669



Internal ID4083902
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:191657822..191724440hg38UCSC Ensembl
Innerchr3:191657830..191724432hg38UCSC Ensembl
Outerchr3:191657814..191724448hg38UCSC Ensembl
chr3:191375611..191442229hg19UCSC Ensembl
Innerchr3:191375619..191442221hg19UCSC Ensembl
Outerchr3:191375603..191442237hg19UCSC Ensembl
Cytoband3q28
Allele length
AssemblyAllele length
hg3866619
hg1966619
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3599119
Supporting Variants
SamplesHG03713
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv11272669
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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