A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3354817



Internal ID15201798
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:117837030..117837055hg38UCSC Ensembl
Innerchr1:117837032..117837053hg38UCSC Ensembl
Outerchr1:117837007..117837078hg38UCSC Ensembl
chr1:118379652..118379677hg19UCSC Ensembl
Innerchr1:118379654..118379675hg19UCSC Ensembl
Outerchr1:118379629..118379700hg19UCSC Ensembl
chr1:118181175..118181200hg18UCSC Ensembl
Innerchr1:118181198..118181177hg18UCSC Ensembl
Outerchr1:118181152..118181223hg18UCSC Ensembl
Cytoband1p12
Allele length
AssemblyAllele length
hg38236
hg19236
hg18236
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv8901211, essv8901212, essv8901208, essv8901210, essv8901209
SamplesNA18545, NA18547, NA12249, NA07037, NA18552
Known Genes
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3354817
Frequency
Sample Size185
Observed Gain5
Observed Loss0
Observed Complex0
Frequencyn/a


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