A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3644847



Internal ID6684910
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:55793084..55795688hg38UCSC Ensembl
Innerchr19:55793102..55795670hg38UCSC Ensembl
Outerchr19:55793066..55795706hg38UCSC Ensembl
chr19:56304450..56307054hg19UCSC Ensembl
Innerchr19:56304468..56307036hg19UCSC Ensembl
Outerchr19:56304432..56307072hg19UCSC Ensembl
Cytoband19q13.43
Allele length
AssemblyAllele length
hg382605
hg192605
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv16100740, essv16100739, essv16100741
SamplesNA19466, NA19075, NA20509
Known GenesNLRP11
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3644847
Frequency
Sample Size2504
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer