A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3306574



Internal ID15153522
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:52776025..52776026hg38UCSC Ensembl
Innerchr12:52775998..52776053hg38UCSC Ensembl
Outerchr12:52775997..52776054hg38UCSC Ensembl
chr12:53169809..53169810hg19UCSC Ensembl
Innerchr12:53169782..53169837hg19UCSC Ensembl
Outerchr12:53169781..53169838hg19UCSC Ensembl
chr12:51456076..51456077hg18UCSC Ensembl
Innerchr12:51456104..51456049hg18UCSC Ensembl
Outerchr12:51456048..51456105hg18UCSC Ensembl
Cytoband12q13.13
Allele length
AssemblyAllele length
hg386026
hg196026
hg186026
Variant TypeCNV mobile element insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7758424, essv7749300, essv7741640, essv7755169, essv7752879
SamplesNA18502, NA18856, NA18523, NA18909, NA18505
Known GenesKRT76
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3306574
Frequency
Sample Size185
Observed Gain5
Observed Loss0
Observed Complex0
Frequencyn/a


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