A curated catalogue of human genomic structural variation




Variant Details

Variant: essv16041331



Internal ID6043147
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:32600959..32614757hg38UCSC Ensembl
Innerchr19:32601459..32614257hg38UCSC Ensembl
Outerchr19:32599959..32615757hg38UCSC Ensembl
chr19:33091865..33105663hg19UCSC Ensembl
Innerchr19:33092365..33105163hg19UCSC Ensembl
Outerchr19:33090865..33106663hg19UCSC Ensembl
Cytoband19q13.11
Allele length
AssemblyAllele length
hg3813799
hg1913799
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3644175
Supporting Variants
SamplesHG01868
Known GenesANKRD27
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv16041331
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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