A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3372293



Internal ID14872552
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:62023598..62023611hg38UCSC Ensembl
Innerchr12:62023588..62023619hg38UCSC Ensembl
Outerchr12:62023575..62023632hg38UCSC Ensembl
chr12:62417379..62417392hg19UCSC Ensembl
Innerchr12:62417369..62417400hg19UCSC Ensembl
Outerchr12:62417356..62417413hg19UCSC Ensembl
chr12:60703646..60703659hg18UCSC Ensembl
Innerchr12:60703667..60703636hg18UCSC Ensembl
Outerchr12:60703623..60703680hg18UCSC Ensembl
Cytoband12q14.1
Allele length
AssemblyAllele length
hg38254
hg19254
hg18254
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv8958014, essv8958010, essv8957995, essv8958009, essv8957990, essv8958007, essv8958006, essv8957998, essv8958012, essv8957994, essv8957993, essv8958016, essv8958011, essv8957996, essv8958013, essv8958008, essv8957999, essv8958001, essv8958005, essv8957997, essv8958002, essv8958000, essv8957991
SamplesNA07347, NA18520, NA18501, NA18489, NA12414, NA18912, NA11994, NA18563, NA18916, NA12716, NA18537, NA19129, NA18522, NA18564, NA18907, NA18909, NA12156, NA19099, NA19225, NA18571, NA11829, NA12717, NA18853
Known GenesFAM19A2
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3372293
Frequency
Sample Size185
Observed Gain23
Observed Loss0
Observed Complex0
Frequencyn/a


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