A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2674964



Internal ID9594383
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr19:55850036..55851707hg38UCSC Ensembl
Outerchr19:55849999..55851757hg38UCSC Ensembl
Innerchr19:56361402..56363073hg19UCSC Ensembl
Outerchr19:56361365..56363123hg19UCSC Ensembl
Cytoband19q13.43
Allele length
AssemblyAllele length
hg381759
hg191759
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6302881, essv6378897, essv5695267
SamplesNA20589, HG00254, NA20807
Known GenesNLRP4
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2674964
Frequency
Sample Size1151
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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