A curated catalogue of human genomic structural variation




Variant Details

Variant: essv16054559



Internal ID6056375
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:39436981..39442216hg38UCSC Ensembl
Innerchr19:39437481..39441716hg38UCSC Ensembl
Outerchr19:39435981..39443216hg38UCSC Ensembl
chr19:39927621..39932856hg19UCSC Ensembl
Innerchr19:39928121..39932356hg19UCSC Ensembl
Outerchr19:39926621..39933856hg19UCSC Ensembl
Cytoband19q13.2
Allele length
AssemblyAllele length
hg385236
hg195236
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3644329
Supporting Variants
SamplesHG02634
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv16054559
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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