A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3367825



Internal ID15214801
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:9411101..9412524hg38UCSC Ensembl
Innerchr1:9411101..9412524hg38UCSC Ensembl
Outerchr1:9410894..9413111hg38UCSC Ensembl
chr1:9471160..9472583hg19UCSC Ensembl
Innerchr1:9471160..9472583hg19UCSC Ensembl
Outerchr1:9470953..9473170hg19UCSC Ensembl
chr1:9393747..9395170hg18UCSC Ensembl
Innerchr1:9393747..9395170hg18UCSC Ensembl
Outerchr1:9393540..9395757hg18UCSC Ensembl
Cytoband1p36.22
Allele length
AssemblyAllele length
hg381424
hg191424
hg181424
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv8652101
SamplesNA19240
Known Genes
MethodSequencing
Analysis
PlatformSOLiD
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3367825
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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