A curated catalogue of human genomic structural variation




Variant Details

Variant: essv16100739



Internal ID6102555
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 StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3644847
Supporting Variants
SamplesNA19075
Known GenesNLRP11
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv16100739
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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