A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3342381



Internal ID14842649
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:32205706..32205725hg38UCSC Ensembl
Innerchr12:32205702..32205729hg38UCSC Ensembl
Outerchr12:32205683..32205748hg38UCSC Ensembl
chr12:32358640..32358659hg19UCSC Ensembl
Innerchr12:32358636..32358663hg19UCSC Ensembl
Outerchr12:32358617..32358682hg19UCSC Ensembl
chr12:32249907..32249926hg18UCSC Ensembl
Innerchr12:32249930..32249903hg18UCSC Ensembl
Outerchr12:32249884..32249949hg18UCSC Ensembl
Cytoband12p11.21
Allele length
AssemblyAllele length
hg38300
hg19300
hg18300
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9656747, essv9656714, essv9656692, essv9656725, essv9656703, essv9656736
SamplesNA12249, NA07347, NA11918, NA11840, NA12814, NA12045
Known GenesBICD1
MethodSequencing
Analysis
Platform454
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3342381
Frequency
Sample Size185
Observed Gain6
Observed Loss0
Observed Complex0
Frequencyn/a


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