A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3376982



Internal ID15223955
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:45832470..45832488hg38UCSC Ensembl
Innerchr12:45832475..45832483hg38UCSC Ensembl
Outerchr12:45832465..45832493hg38UCSC Ensembl
chr12:46226253..46226271hg19UCSC Ensembl
Innerchr12:46226258..46226266hg19UCSC Ensembl
Outerchr12:46226248..46226276hg19UCSC Ensembl
chr12:44512520..44512538hg18UCSC Ensembl
Innerchr12:44512525..44512533hg18UCSC Ensembl
Outerchr12:44512515..44512543hg18UCSC Ensembl
Cytoband12q12
Allele length
AssemblyAllele length
hg3854
hg1954
hg1854
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7865567, essv7865568
SamplesNA12005, NA18871
Known GenesARID2
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3376982
Frequency
Sample Size185
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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