A curated catalogue of human genomic structural variation




Variant Details

Variant: essv11140654



Internal ID1246428
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:128711450..128713937hg38UCSC Ensembl
Innerchr3:128711450..128713937hg38UCSC Ensembl
Outerchr3:128711055..128714243hg38UCSC Ensembl
chr3:128430293..128432780hg19UCSC Ensembl
Innerchr3:128430293..128432780hg19UCSC Ensembl
Outerchr3:128429898..128433086hg19UCSC Ensembl
Cytoband3q21.3
Allele length
AssemblyAllele length
hg382488
hg192488
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3597723
Supporting Variants
SamplesHG01102
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv11140654
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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