A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3306969



Internal ID14807231
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:32205715..32205716hg38UCSC Ensembl
Innerchr12:32205693..32205738hg38UCSC Ensembl
Outerchr12:32205692..32205739hg38UCSC Ensembl
chr12:32358649..32358650hg19UCSC Ensembl
Innerchr12:32358627..32358672hg19UCSC Ensembl
Outerchr12:32358626..32358673hg19UCSC Ensembl
chr12:32249916..32249917hg18UCSC Ensembl
Innerchr12:32249939..32249894hg18UCSC Ensembl
Outerchr12:32249893..32249940hg18UCSC Ensembl
Cytoband12p11.21
Allele length
AssemblyAllele length
hg38292
hg19292
hg18292
Variant TypeCNV mobile element insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7766831, essv7764709, essv7764638, essv7763413, essv7767712, essv7766526, essv7769128, essv7765424
SamplesNA11881, NA12249, NA07347, NA11918, NA11840, NA12814, NA12234, NA12045
Known GenesBICD1
MethodSequencing
Analysis
PlatformRoche 454
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3306969
Frequency
Sample Size185
Observed Gain8
Observed Loss0
Observed Complex0
Frequencyn/a


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