A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3349279



Internal ID15196261
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:29551451..30655899hg38UCSC Ensembl
Innerchr1:29551501..30655849hg38UCSC Ensembl
Outerchr1:29551401..30655949hg38UCSC Ensembl
chr1:29877963..31128746hg19UCSC Ensembl
Innerchr1:29878013..31128696hg19UCSC Ensembl
Outerchr1:29877913..31128796hg19UCSC Ensembl
chr1:29750550..30901333hg18UCSC Ensembl
Innerchr1:29750600..30901283hg18UCSC Ensembl
Outerchr1:29750500..30901383hg18UCSC Ensembl
Cytoband1p35.2
Allele length
AssemblyAllele length
hg381104449
hg191250784
hg181150784
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv8740960
SamplesNA19240
Known Genes
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3349279
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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