A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3423762



Internal ID15270719
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:20320949..20320968hg38UCSC Ensembl
Innerchr12:20320945..20320972hg38UCSC Ensembl
Outerchr12:20320926..20320991hg38UCSC Ensembl
chr12:20473883..20473902hg19UCSC Ensembl
Innerchr12:20473879..20473906hg19UCSC Ensembl
Outerchr12:20473860..20473925hg19UCSC Ensembl
chr12:20365150..20365169hg18UCSC Ensembl
Innerchr12:20365173..20365146hg18UCSC Ensembl
Outerchr12:20365127..20365192hg18UCSC Ensembl
Cytoband12p12.2
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 Variantsessv9655736, essv9655747, essv9655725, essv9655714
SamplesNA18970, NA12234, NA12249, NA12873
Known Genes
MethodSequencing
Analysis
Platform454
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3423762
Frequency
Sample Size185
Observed Gain4
Observed Loss0
Observed Complex0
Frequencyn/a


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