A curated catalogue of human genomic structural variation




Variant Details

Variant: essv7837110



Internal ID14691770
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:30967795..30967796hg38UCSC Ensembl
Innerchr12:30967763..30967828hg38UCSC Ensembl
Outerchr12:30967762..30967829hg38UCSC Ensembl
chr12:31120730..31120731hg19UCSC Ensembl
Innerchr12:31120698..31120763hg19UCSC Ensembl
Outerchr12:31120697..31120764hg19UCSC Ensembl
chr12:31011997..31011998hg18UCSC Ensembl
Innerchr12:31012030..31011965hg18UCSC Ensembl
Outerchr12:31011964..31012031hg18UCSC Ensembl
Cytoband12p11.21
Allele length
AssemblyAllele length
hg38310
hg19310
hg18310
Variant TypeCNV mobile element insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3309360
Supporting Variants
SamplesNA19239
Known GenesTSPAN11
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv7837110
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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