A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3395762



Internal ID15242726
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:5085845..5085869hg38UCSC Ensembl
Innerchr12:5085846..5085866hg38UCSC Ensembl
Outerchr12:5085822..5085890hg38UCSC Ensembl
chr12:5195011..5195035hg19UCSC Ensembl
Innerchr12:5195012..5195032hg19UCSC Ensembl
Outerchr12:5194988..5195056hg19UCSC Ensembl
chr12:5065272..5065296hg18UCSC Ensembl
Innerchr12:5065293..5065273hg18UCSC Ensembl
Outerchr12:5065249..5065317hg18UCSC Ensembl
Cytoband12p13.32
Allele length
AssemblyAllele length
hg38248
hg19248
hg18248
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv8955456, essv8955458, essv8955457, essv8955455, essv8955461, essv8955459
SamplesNA18508, NA19138, NA19210, NA18907, NA18523, NA18501
Known Genes
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3395762
Frequency
Sample Size185
Observed Gain6
Observed Loss0
Observed Complex0
Frequencyn/a


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