A curated catalogue of human genomic structural variation




Variant Details

Variant: essv16055673



Internal ID6825591
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:41142943..41145574hg38UCSC Ensembl
Innerchr19:41143093..41145424hg38UCSC Ensembl
Outerchr19:41142793..41145724hg38UCSC Ensembl
chr19:41648848..41651479hg19UCSC Ensembl
Innerchr19:41648998..41651329hg19UCSC Ensembl
Outerchr19:41648698..41651629hg19UCSC Ensembl
Cytoband19q13.2
Allele length
AssemblyAllele length
hg382632
hg192632
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3644373
Supporting Variants
SamplesNA20901
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv16055673
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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