A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8959135



Internal ID13816562
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:106158217..106158239hg38UCSC Ensembl
Innerchr12:106158216..106158238hg38UCSC Ensembl
Outerchr12:106158194..106158262hg38UCSC Ensembl
chr12:106551995..106552017hg19UCSC Ensembl
Innerchr12:106551994..106552016hg19UCSC Ensembl
Outerchr12:106551972..106552040hg19UCSC Ensembl
chr12:105076125..105076147hg18UCSC Ensembl
Innerchr12:105076146..105076124hg18UCSC Ensembl
Outerchr12:105076102..105076170hg18UCSC Ensembl
Cytoband12q23.3
Allele length
AssemblyAllele length
hg38273
hg19273
hg18273
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3326177
Supporting Variants
SamplesNA18505
Known Genes
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8959135
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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