A curated catalogue of human genomic structural variation




Variant Details

Variant: essv16064850



Internal ID3241721
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:44567966..44575267hg38UCSC Ensembl
Innerchr19:44567980..44575253hg38UCSC Ensembl
Outerchr19:44567952..44575281hg38UCSC Ensembl
chr19:45071212..45078515hg19UCSC Ensembl
Innerchr19:45071226..45078501hg19UCSC Ensembl
Outerchr19:45071198..45078529hg19UCSC Ensembl
Cytoband19q13.31
Allele length
AssemblyAllele length
hg387302
hg197304
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3644488
Supporting Variants
SamplesHG02855
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv16064850
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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