A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3328823



Internal ID15175810
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:97026270..97026322hg38UCSC Ensembl
Innerchr12:97026278..97026311hg38UCSC Ensembl
Outerchr12:97026226..97026363hg38UCSC Ensembl
chr12:97420048..97420100hg19UCSC Ensembl
Innerchr12:97420056..97420089hg19UCSC Ensembl
Outerchr12:97420004..97420141hg19UCSC Ensembl
chr12:95944179..95944231hg18UCSC Ensembl
Innerchr12:95944220..95944187hg18UCSC Ensembl
Outerchr12:95944135..95944272hg18UCSC Ensembl
Cytoband12q23.1
Allele length
AssemblyAllele length
hg38247
hg19247
hg18247
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv8958910, essv8958907, essv8958908, essv8958909
SamplesNA18592, NA18940, NA18537, NA18573
Known Genes
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3328823
Frequency
Sample Size185
Observed Gain4
Observed Loss0
Observed Complex0
Frequencyn/a


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