A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3644850



Internal ID7031601
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:55838221..55841794hg38UCSC Ensembl
Innerchr19:55838228..55841788hg38UCSC Ensembl
Outerchr19:55838215..55841801hg38UCSC Ensembl
chr19:56349587..56353160hg19UCSC Ensembl
Innerchr19:56349594..56353154hg19UCSC Ensembl
Outerchr19:56349581..56353167hg19UCSC Ensembl
Cytoband19q13.43
Allele length
AssemblyAllele length
hg383574
hg193574
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv16100747
SamplesHG04098
Known GenesNLRP4
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3644850
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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