A curated catalogue of human genomic structural variation




Variant Details

Variant: essv16002949



Internal ID6004765
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:17080110..17081810hg38UCSC Ensembl
Innerchr19:17080126..17081795hg38UCSC Ensembl
Outerchr19:17080095..17081826hg38UCSC Ensembl
chr19:17190920..17192620hg19UCSC Ensembl
Innerchr19:17190936..17192605hg19UCSC Ensembl
Outerchr19:17190905..17192636hg19UCSC Ensembl
Cytoband19p13.11
Allele length
AssemblyAllele length
hg381701
hg191701
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3643811
Supporting Variants
SamplesNA19670
Known GenesMYO9B
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv16002949
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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