A curated catalogue of human genomic structural variation




Variant Details

Variant: essv16056193



Internal ID6058009
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:41806137..41816598hg38UCSC Ensembl
Innerchr19:41806184..41816552hg38UCSC Ensembl
Outerchr19:41806091..41816645hg38UCSC Ensembl
chr19:42310178..42320634hg19UCSC Ensembl
Innerchr19:42310225..42320588hg19UCSC Ensembl
Outerchr19:42310132..42320681hg19UCSC Ensembl
Cytoband19q13.2
Allele length
AssemblyAllele length
hg3810462
hg1910457
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3644395
Supporting Variants
SamplesHG02401
Known GenesCEACAM3
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv16056193
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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