A curated catalogue of human genomic structural variation




Variant Details

Variant: essv16076059



Internal ID6077875
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:50302681..50304376hg38UCSC Ensembl
Innerchr19:50302722..50304335hg38UCSC Ensembl
Outerchr19:50302640..50304417hg38UCSC Ensembl
chr19:50805938..50807633hg19UCSC Ensembl
Innerchr19:50805979..50807592hg19UCSC Ensembl
Outerchr19:50805897..50807674hg19UCSC Ensembl
Cytoband19q13.33
Allele length
AssemblyAllele length
hg381696
hg191696
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3644643
Supporting Variants
SamplesHG00237
Known GenesMYH14
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv16076059
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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