A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3409640



Internal ID14909914
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:178017196..178017250hg38UCSC Ensembl
Innerchr1:178017220..178017224hg38UCSC Ensembl
Outerchr1:178017166..178017278hg38UCSC Ensembl
chr1:177986331..177986385hg19UCSC Ensembl
Innerchr1:177986355..177986359hg19UCSC Ensembl
Outerchr1:177986301..177986413hg19UCSC Ensembl
chr1:176252954..176253008hg18UCSC Ensembl
Innerchr1:176252982..176252978hg18UCSC Ensembl
Outerchr1:176252924..176253036hg18UCSC Ensembl
Cytoband1q25.2
Allele length
AssemblyAllele length
hg38247
hg19247
hg18247
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv8901879
SamplesNA18907
Known GenesLOC730102
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3409640
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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