A curated catalogue of human genomic structural variation




Variant Details

Variant: essv7759697



Internal ID13461116
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:69728834..69728835hg38UCSC Ensembl
Innerchr12:69728796..69728873hg38UCSC Ensembl
Outerchr12:69728795..69728874hg38UCSC Ensembl
chr12:70122614..70122615hg19UCSC Ensembl
Innerchr12:70122576..70122653hg19UCSC Ensembl
Outerchr12:70122575..70122654hg19UCSC Ensembl
chr12:68408881..68408882hg18UCSC Ensembl
Innerchr12:68408920..68408843hg18UCSC Ensembl
Outerchr12:68408842..68408921hg18UCSC Ensembl
Cytoband12q15
Allele length
AssemblyAllele length
hg3850
hg1950
hg1850
Variant TypeCNV mobile element insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3304014
Supporting Variants
SamplesNA12414
Known Genes
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv7759697
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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