A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3345257



Internal ID15192241
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:44670584..44670603hg38UCSC Ensembl
Innerchr12:44670580..44670607hg38UCSC Ensembl
Outerchr12:44670561..44670626hg38UCSC Ensembl
chr12:45064367..45064386hg19UCSC Ensembl
Innerchr12:45064363..45064390hg19UCSC Ensembl
Outerchr12:45064344..45064409hg19UCSC Ensembl
chr12:43350634..43350653hg18UCSC Ensembl
Innerchr12:43350657..43350630hg18UCSC Ensembl
Outerchr12:43350611..43350676hg18UCSC Ensembl
Cytoband12q12
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 Variantsessv9657202, essv9657180, essv9657191
SamplesNA12812, NA12043, NA12874
Known GenesNELL2
MethodSequencing
Analysis
Platform454
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3345257
Frequency
Sample Size185
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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