A curated catalogue of human genomic structural variation




Variant Details

Variant: essv9677925



Internal ID13425337
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:31438237..31438256hg38UCSC Ensembl
Innerchr19:31438233..31438260hg38UCSC Ensembl
Outerchr19:31438214..31438279hg38UCSC Ensembl
chr19:31929143..31929162hg19UCSC Ensembl
Innerchr19:31929139..31929166hg19UCSC Ensembl
Outerchr19:31929120..31929185hg19UCSC Ensembl
chr19:36620983..36621002hg18UCSC Ensembl
Innerchr19:36621006..36620979hg18UCSC Ensembl
Outerchr19:36620960..36621025hg18UCSC Ensembl
Cytoband19q12
Allele length
AssemblyAllele length
hg386000
hg196000
hg186000
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3447079
Supporting Variants
SamplesNA12249
Known Genes
MethodSequencing
Analysis
Platform454
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv9677925
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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