A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3386001



Internal ID14886284
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:19488224..19488233hg38UCSC Ensembl
Innerchr1:19488228..19488229hg38UCSC Ensembl
Outerchr1:19488219..19488238hg38UCSC Ensembl
chr1:19814718..19814727hg19UCSC Ensembl
Innerchr1:19814722..19814723hg19UCSC Ensembl
Outerchr1:19814713..19814732hg19UCSC Ensembl
chr1:19687305..19687314hg18UCSC Ensembl
Innerchr1:19687310..19687309hg18UCSC Ensembl
Outerchr1:19687300..19687319hg18UCSC Ensembl
Cytoband1p36.13
Allele length
AssemblyAllele length
hg3855
hg1955
hg1855
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7863679
SamplesNA12005
Known Genes
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3386001
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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