A curated catalogue of human genomic structural variation




Variant Details

Variant: essv7866103



Internal ID13318239
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:34951011..34951039hg38UCSC Ensembl
Innerchr19:34950968..34951082hg38UCSC Ensembl
Outerchr19:34950940..34951110hg38UCSC Ensembl
chr19:35441915..35441943hg19UCSC Ensembl
Innerchr19:35441872..35441986hg19UCSC Ensembl
Outerchr19:35441844..35442014hg19UCSC Ensembl
chr19:40133755..40133783hg18UCSC Ensembl
Innerchr19:40133826..40133712hg18UCSC Ensembl
Outerchr19:40133684..40133854hg18UCSC Ensembl
Cytoband19q13.11
Allele length
AssemblyAllele length
hg3853
hg1953
hg1853
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3447515
Supporting Variants
SamplesNA12005
Known Genes
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv7866103
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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