A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3361767



Internal ID14862028
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:101890477..101890503hg38UCSC Ensembl
Innerchr12:101890464..101890516hg38UCSC Ensembl
Outerchr12:101890438..101890542hg38UCSC Ensembl
chr12:102284255..102284281hg19UCSC Ensembl
Innerchr12:102284242..102284294hg19UCSC Ensembl
Outerchr12:102284216..102284320hg19UCSC Ensembl
chr12:100808386..100808412hg18UCSC Ensembl
Innerchr12:100808425..100808373hg18UCSC Ensembl
Outerchr12:100808347..100808451hg18UCSC Ensembl
Cytoband12q23.2
Allele length
AssemblyAllele length
hg3853
hg1953
hg1853
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7865617, essv7865618
SamplesNA18961, NA18853
Known GenesDRAM1
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3361767
Frequency
Sample Size185
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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