A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3396786



Internal ID14897063
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 StatusM
Merged Variants
Supporting Variantsessv8974767, essv8974772, essv8974756, essv8974769, essv8974762, essv8974760, essv8974773, essv8974774, essv8974764, essv8974761, essv8974755, essv8974763, essv8974771, essv8974768, essv8974765, essv8974758, essv8974766, essv8974757, essv8974775
SamplesNA11881, NA07347, NA07037, NA18948, NA11931, NA18947, NA18573, NA18505, NA12763, NA11831, NA18973, NA18593, NA19190, NA18572, NA19102, NA18940, NA19225, NA11993, NA18980
Known GenesURI1
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3396786
Frequency
Sample Size185
Observed Gain19
Observed Loss0
Observed Complex0
Frequencyn/a


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