A curated catalogue of human genomic structural variation




Variant Details

Variant: essv16072683



Internal ID5580894
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:48145923..48147436hg38UCSC Ensembl
Innerchr19:48145966..48147393hg38UCSC Ensembl
Outerchr19:48145880..48147479hg38UCSC Ensembl
chr19:48649180..48650693hg19UCSC Ensembl
Innerchr19:48649223..48650650hg19UCSC Ensembl
Outerchr19:48649137..48650736hg19UCSC Ensembl
Cytoband19q13.33
Allele length
AssemblyAllele length
hg381514
hg191514
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3644578
Supporting Variants
SamplesNA19024
Known GenesLIG1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv16072683
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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