A curated catalogue of human genomic structural variation




Variant Details

Variant: essv16054650



Internal ID6056466
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:40085158..40087032hg38UCSC Ensembl
Innerchr19:40085162..40087029hg38UCSC Ensembl
Outerchr19:40085155..40087036hg38UCSC Ensembl
chr19:40591065..40592939hg19UCSC Ensembl
Innerchr19:40591069..40592936hg19UCSC Ensembl
Outerchr19:40591062..40592943hg19UCSC Ensembl
Cytoband19q13.2
Allele length
AssemblyAllele length
hg381875
hg191875
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3644341
Supporting Variants
SamplesHG04219
Known GenesZNF780A
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv16054650
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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