A curated catalogue of human genomic structural variation




Variant Details

Variant: essv16100745



Internal ID6102561
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:55836319..55989037hg38UCSC Ensembl
chr19:56347685..56500403hg19UCSC Ensembl
Cytoband19q13.43
Allele length
AssemblyAllele length
hg38152719
hg19152719
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3644849
Supporting Variants
SamplesNA19327
Known GenesNLRP11, NLRP13, NLRP4, NLRP8
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv16100745
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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