A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3390200



Internal ID15237167
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:37889778..37889778hg38UCSC Ensembl
Innerchr19:37889777..37889779hg38UCSC Ensembl
Outerchr19:37889728..37889828hg38UCSC Ensembl
chr19:38380418..38380418hg19UCSC Ensembl
Innerchr19:38380417..38380419hg19UCSC Ensembl
Outerchr19:38380368..38380468hg19UCSC Ensembl
chr19:43072258..43072258hg18UCSC Ensembl
Innerchr19:43072259..43072257hg18UCSC Ensembl
Outerchr19:43072208..43072308hg18UCSC Ensembl
Cytoband19q13.13
Allele length
AssemblyAllele length
hg382990
hg192990
hg182990
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv8740910
SamplesNA19240
Known GenesWDR87
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3390200
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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