A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8822371



Internal ID13329040
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:5787220..5787220hg38UCSC Ensembl
Innerchr19:5787219..5787221hg38UCSC Ensembl
Outerchr19:5787160..5787270hg38UCSC Ensembl
chr19:5787231..5787231hg19UCSC Ensembl
Innerchr19:5787230..5787232hg19UCSC Ensembl
Outerchr19:5787171..5787281hg19UCSC Ensembl
chr19:5738231..5738231hg18UCSC Ensembl
Innerchr19:5738232..5738230hg18UCSC Ensembl
Outerchr19:5738171..5738281hg18UCSC Ensembl
Cytoband19p13.3
Allele length
AssemblyAllele length
hg3880
hg1980
hg1880
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsesv3399820
Supporting Variants
SamplesNA12878
Known GenesDUS3L
MethodSequencing
Analysis
Platform454
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8822371
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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