A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8740910



Internal ID15084916
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 StatusS
Merged Variantsesv3390200
Supporting Variants
SamplesNA19240
Known GenesWDR87
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8740910
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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