A curated catalogue of human genomic structural variation




Variant Details

Variant: essv16054815



Internal ID6056631
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:40447641..40453028hg38UCSC Ensembl
Innerchr19:40447641..40453028hg38UCSC Ensembl
Outerchr19:40447413..40453258hg38UCSC Ensembl
chr19:40953548..40958935hg19UCSC Ensembl
Innerchr19:40953548..40958935hg19UCSC Ensembl
Outerchr19:40953320..40959165hg19UCSC Ensembl
Cytoband19q13.2
Allele length
AssemblyAllele length
hg385388
hg195388
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3644349
Supporting Variants
SamplesHG02799
Known GenesBLVRB
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv16054815
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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