A curated catalogue of human genomic structural variation




Variant Details

Variant: essv16069693



Internal ID6071509
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:46768258..46772221hg38UCSC Ensembl
Innerchr19:46768259..46772220hg38UCSC Ensembl
Outerchr19:46768257..46772222hg38UCSC Ensembl
chr19:47271515..47275478hg19UCSC Ensembl
Innerchr19:47271516..47275477hg19UCSC Ensembl
Outerchr19:47271514..47275479hg19UCSC Ensembl
Cytoband19q13.32
Allele length
AssemblyAllele length
hg383964
hg193964
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3644536
Supporting Variants
SamplesNA21107
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv16069693
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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