A curated catalogue of human genomic structural variation




Variant Details

Variant: essv11013773



Internal ID1015589
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:52690398..52692540hg38UCSC Ensembl
Innerchr3:52690422..52692517hg38UCSC Ensembl
Outerchr3:52690375..52692564hg38UCSC Ensembl
chr3:52724414..52726556hg19UCSC Ensembl
Innerchr3:52724438..52726533hg19UCSC Ensembl
Outerchr3:52724391..52726580hg19UCSC Ensembl
Cytoband3p21.1
Allele length
AssemblyAllele length
hg382143
hg192143
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3596161
Supporting Variants
SamplesNA19185
Known GenesGNL3, SNORD19B
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv11013773
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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