A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3342394



Internal ID14842662
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:30967799..30967813hg38UCSC Ensembl
Innerchr12:30967790..30967822hg38UCSC Ensembl
Outerchr12:30967774..30967836hg38UCSC Ensembl
chr12:31120734..31120748hg19UCSC Ensembl
Innerchr12:31120725..31120757hg19UCSC Ensembl
Outerchr12:31120709..31120771hg19UCSC Ensembl
chr12:31012001..31012015hg18UCSC Ensembl
Innerchr12:31012024..31011992hg18UCSC Ensembl
Outerchr12:31011976..31012038hg18UCSC Ensembl
Cytoband12p11.21
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 Variantsessv8672334, essv8672333, essv8672335, essv8672336
SamplesNA19239, NA12891, NA12878, NA19240
Known GenesTSPAN11
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3342394
Frequency
Sample Size185
Observed Gain4
Observed Loss0
Observed Complex0
Frequencyn/a


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