A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8974799



Internal ID13792758
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:39697686..39697714hg38UCSC Ensembl
Innerchr19:39697698..39697700hg38UCSC Ensembl
Outerchr19:39697672..39697728hg38UCSC Ensembl
chr19:40188326..40188354hg19UCSC Ensembl
Innerchr19:40188338..40188340hg19UCSC Ensembl
Outerchr19:40188312..40188368hg19UCSC Ensembl
chr19:44880166..44880194hg18UCSC Ensembl
Innerchr19:44880178..44880180hg18UCSC Ensembl
Outerchr19:44880152..44880208hg18UCSC Ensembl
Cytoband19q13.2
Allele length
AssemblyAllele length
hg385995
hg195995
hg185995
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3366291
Supporting Variants
SamplesNA18502
Known Genes
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8974799
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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