A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8974769



Internal ID13225390
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:29957290..29957304hg38UCSC Ensembl
Innerchr19:29957283..29957308hg38UCSC Ensembl
Outerchr19:29957269..29957322hg38UCSC Ensembl
chr19:30448197..30448211hg19UCSC Ensembl
Innerchr19:30448190..30448215hg19UCSC Ensembl
Outerchr19:30448176..30448229hg19UCSC Ensembl
chr19:35140037..35140051hg18UCSC Ensembl
Innerchr19:35140055..35140030hg18UCSC Ensembl
Outerchr19:35140016..35140069hg18UCSC Ensembl
Cytoband19q12
Allele length
AssemblyAllele length
hg38289
hg19289
hg18289
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3396786
Supporting Variants
SamplesNA12763
Known GenesURI1
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8974769
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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