A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3409549



Internal ID14909823
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:59724990..59725019hg38UCSC Ensembl
Innerchr12:59725003..59725006hg38UCSC Ensembl
Outerchr12:59724974..59725035hg38UCSC Ensembl
chr12:60118771..60118800hg19UCSC Ensembl
Innerchr12:60118784..60118787hg19UCSC Ensembl
Outerchr12:60118755..60118816hg19UCSC Ensembl
chr12:58405038..58405067hg18UCSC Ensembl
Innerchr12:58405054..58405051hg18UCSC Ensembl
Outerchr12:58405022..58405083hg18UCSC Ensembl
Cytoband12q14.1
Allele length
AssemblyAllele length
hg38253
hg19253
hg18253
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv8957668, essv8957665, essv8957667, essv8957663, essv8957666, essv8957673, essv8957664, essv8957662, essv8957672
SamplesNA18871, NA18523, NA18517, NA18489, NA19147, NA18856, NA19005, NA19225, NA18853
Known GenesSLC16A7
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3409549
Frequency
Sample Size185
Observed Gain9
Observed Loss0
Observed Complex0
Frequencyn/a


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