A curated catalogue of human genomic structural variation




Variant Details

Variant: essv16100748



Internal ID6102564
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:55843395..56076000hg38UCSC Ensembl
Innerchr19:55843545..56075850hg38UCSC Ensembl
Outerchr19:55843245..56076150hg38UCSC Ensembl
chr19:56354761..56587366hg19UCSC Ensembl
Innerchr19:56354911..56587216hg19UCSC Ensembl
Outerchr19:56354611..56587516hg19UCSC Ensembl
Cytoband19q13.43
Allele length
AssemblyAllele length
hg38232606
hg19232606
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3644851
Supporting Variants
SamplesHG03910
Known GenesNLRP13, NLRP4, NLRP5, NLRP8
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv16100748
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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