A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8691523



Internal ID13387752
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:35296509..35299207hg38UCSC Ensembl
Innerchr19:35297509..35298207hg38UCSC Ensembl
Outerchr19:35295509..35300207hg38UCSC Ensembl
chr19:35787412..35790110hg19UCSC Ensembl
Innerchr19:35788412..35789110hg19UCSC Ensembl
Outerchr19:35786412..35791110hg19UCSC Ensembl
chr19:40479252..40481950hg18UCSC Ensembl
Innerchr19:40480252..40480950hg18UCSC Ensembl
Outerchr19:40478252..40482950hg18UCSC Ensembl
Cytoband19q13.12
Allele length
AssemblyAllele length
hg382699
hg192699
hg182699
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3447618
Supporting Variants
SamplesNA12892
Known GenesMAG
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8691523
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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