A curated catalogue of human genomic structural variation




Variant Details

Variant: essv16100250



Internal ID1169641
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:54959202..54960684hg38UCSC Ensembl
Innerchr19:54959202..54960684hg38UCSC Ensembl
Outerchr19:54958845..54960999hg38UCSC Ensembl
chr19:55470570..55472052hg19UCSC Ensembl
Innerchr19:55470570..55472052hg19UCSC Ensembl
Outerchr19:55470213..55472367hg19UCSC Ensembl
Cytoband19q13.42
Allele length
AssemblyAllele length
hg381483
hg191483
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3644825
Supporting Variants
SamplesHG01051
Known GenesRNU6-35P, RNU6-64P
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv16100250
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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