A curated catalogue of human genomic structural variation




Variant Details

Variant: essv16031536



Internal ID6033352
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:28892147..29000617hg38UCSC Ensembl
Innerchr19:28892147..29000617hg38UCSC Ensembl
Outerchr19:28891647..29001117hg38UCSC Ensembl
chr19:29383054..29491524hg19UCSC Ensembl
Innerchr19:29383054..29491524hg19UCSC Ensembl
Outerchr19:29382554..29492024hg19UCSC Ensembl
Cytoband19q12
Allele length
AssemblyAllele length
hg38108471
hg19108471
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3644110
Supporting Variants
SamplesHG02152
Known GenesLINC00906
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv16031536
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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