A curated catalogue of human genomic structural variation




Variant Details

Variant: essv16033288



Internal ID6035104
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:29970639..29973330hg38UCSC Ensembl
Innerchr19:29970639..29973330hg38UCSC Ensembl
Outerchr19:29970556..29973403hg38UCSC Ensembl
chr19:30461546..30464237hg19UCSC Ensembl
Innerchr19:30461546..30464237hg19UCSC Ensembl
Outerchr19:30461463..30464310hg19UCSC Ensembl
Cytoband19q12
Allele length
AssemblyAllele length
hg382692
hg192692
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3644131
Supporting Variants
SamplesNA06984
Known GenesURI1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv16033288
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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