A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3325227



Internal ID15172208
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:233383388..233383407hg38UCSC Ensembl
Innerchr1:233383384..233383411hg38UCSC Ensembl
Outerchr1:233383365..233383430hg38UCSC Ensembl
chr1:233519134..233519153hg19UCSC Ensembl
Innerchr1:233519130..233519157hg19UCSC Ensembl
Outerchr1:233519111..233519176hg19UCSC Ensembl
chr1:231585757..231585776hg18UCSC Ensembl
Innerchr1:231585780..231585753hg18UCSC Ensembl
Outerchr1:231585734..231585799hg18UCSC Ensembl
Cytoband1q42.2
Allele length
AssemblyAllele length
hg38300
hg19300
hg18300
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9598735, essv9598724
SamplesNA12812, NA11840
Known GenesKIAA1804
MethodSequencing
Analysis
Platform454
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3325227
Frequency
Sample Size185
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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