A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3329686



Internal ID15176672
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:111353437..111353554hg38UCSC Ensembl
Innerchr1:111353437..111353554hg38UCSC Ensembl
Outerchr1:111351351..111354295hg38UCSC Ensembl
chr1:111896059..111896176hg19UCSC Ensembl
Innerchr1:111896059..111896176hg19UCSC Ensembl
Outerchr1:111893973..111896917hg19UCSC Ensembl
chr1:111697582..111697699hg18UCSC Ensembl
Innerchr1:111697582..111697699hg18UCSC Ensembl
Outerchr1:111695496..111698440hg18UCSC Ensembl
Cytoband1p13.2
Allele length
AssemblyAllele length
hg38118
hg19118
hg18118
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv8652036
SamplesNA19240
Known Genes
MethodSequencing
Analysis
PlatformSOLiD
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3329686
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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