A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3326177



Internal ID15173158
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 StatusM
Merged Variants
Supporting Variantsessv8959135, essv8959138, essv8959134, essv8959136, essv8959132, essv8959133
SamplesNA18907, NA18523, NA19093, NA19116, NA18505, NA19129
Known Genes
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3326177
Frequency
Sample Size185
Observed Gain6
Observed Loss0
Observed Complex0
Frequencyn/a


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