A curated catalogue of human genomic structural variation




Variant Details

Variant: essv16002952



Internal ID5662439
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:17133969..17134603hg38UCSC Ensembl
Innerchr19:17133980..17134593hg38UCSC Ensembl
Outerchr19:17133959..17134614hg38UCSC Ensembl
chr19:17244779..17245413hg19UCSC Ensembl
Innerchr19:17244790..17245403hg19UCSC Ensembl
Outerchr19:17244769..17245424hg19UCSC Ensembl
Cytoband19p13.11
Allele length
AssemblyAllele length
hg38635
hg19635
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3643813
Supporting Variants
SamplesNA19072
Known GenesMYO9B
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv16002952
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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