A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3343658



Internal ID14843926
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:9491949..9491949hg38UCSC Ensembl
Innerchr19:9491948..9491950hg38UCSC Ensembl
Outerchr19:9491899..9491999hg38UCSC Ensembl
chr19:9602625..9602625hg19UCSC Ensembl
Innerchr19:9602624..9602626hg19UCSC Ensembl
Outerchr19:9602575..9602675hg19UCSC Ensembl
chr19:9463625..9463625hg18UCSC Ensembl
Innerchr19:9463626..9463624hg18UCSC Ensembl
Outerchr19:9463575..9463675hg18UCSC Ensembl
Cytoband19p13.2
Allele length
AssemblyAllele length
hg38768
hg19768
hg18768
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv8740920
SamplesNA19240
Known GenesZNF560
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3343658
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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