A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3348184



Internal ID15195166
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:31615464..31616962hg38UCSC Ensembl
Innerchr1:31615962..31616464hg38UCSC Ensembl
Outerchr1:31614464..31617962hg38UCSC Ensembl
chr1:32081065..32082563hg19UCSC Ensembl
Innerchr1:32081563..32082065hg19UCSC Ensembl
Outerchr1:32080065..32083563hg19UCSC Ensembl
chr1:31853652..31855150hg18UCSC Ensembl
Innerchr1:31854652..31854150hg18UCSC Ensembl
Outerchr1:31852652..31856150hg18UCSC Ensembl
Cytoband1p35.2
Allele length
AssemblyAllele length
hg381499
hg191499
hg181499
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv8692295
SamplesNA19239
Known Genes
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3348184
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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