A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3380538



Internal ID15227510
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:157393689..157393708hg38UCSC Ensembl
Innerchr1:157393685..157393712hg38UCSC Ensembl
Outerchr1:157393666..157393731hg38UCSC Ensembl
chr1:157363479..157363498hg19UCSC Ensembl
Innerchr1:157363475..157363502hg19UCSC Ensembl
Outerchr1:157363456..157363521hg19UCSC Ensembl
chr1:155630103..155630122hg18UCSC Ensembl
Innerchr1:155630126..155630099hg18UCSC Ensembl
Outerchr1:155630080..155630145hg18UCSC Ensembl
Cytoband1q23.1
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 Variantsessv9596446, essv9596457
SamplesNA11931, NA18970
Known Genes
MethodSequencing
Analysis
Platform454
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3380538
Frequency
Sample Size185
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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