A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3644849



Internal ID6684912
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 State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv16100745, essv16100746, essv16100744
SamplesHG03910, NA19327, NA19467
Known GenesNLRP11, NLRP13, NLRP4, NLRP8
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3644849
Frequency
Sample Size2504
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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