A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3644852



Internal ID6684915
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:55848269..55916219hg38UCSC Ensembl
chr19:56359635..56427585hg19UCSC Ensembl
Cytoband19q13.43
Allele length
AssemblyAllele length
hg3867951
hg1967951
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv16100749
SamplesHG03910
Known GenesNLRP13, NLRP4
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3644852
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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