A curated catalogue of human genomic structural variation




Variant Details

Variant: essv7866111



Internal ID13318246
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:39946651..39946663hg38UCSC Ensembl
Innerchr19:39946653..39946661hg38UCSC Ensembl
Outerchr19:39946649..39946665hg38UCSC Ensembl
chr19:40452558..40452570hg19UCSC Ensembl
Innerchr19:40452560..40452568hg19UCSC Ensembl
Outerchr19:40452556..40452572hg19UCSC Ensembl
chr19:45144398..45144410hg18UCSC Ensembl
Innerchr19:45144400..45144408hg18UCSC Ensembl
Outerchr19:45144396..45144412hg18UCSC Ensembl
Cytoband19q13.2
Allele length
AssemblyAllele length
hg3850
hg1950
hg1850
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3328827
Supporting Variants
SamplesNA12005
Known Genes
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv7866111
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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