A curated catalogue of human genomic structural variation




Variant Details

Variant: essv7863694



Internal ID13316126
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:48453936..48453958hg38UCSC Ensembl
Innerchr1:48453901..48453993hg38UCSC Ensembl
Outerchr1:48453879..48454015hg38UCSC Ensembl
chr1:48919608..48919630hg19UCSC Ensembl
Innerchr1:48919573..48919665hg19UCSC Ensembl
Outerchr1:48919551..48919687hg19UCSC Ensembl
chr1:48692195..48692217hg18UCSC Ensembl
Innerchr1:48692252..48692160hg18UCSC Ensembl
Outerchr1:48692138..48692274hg18UCSC Ensembl
Cytoband1p33
Allele length
AssemblyAllele length
hg3850
hg1950
hg1850
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3387404
Supporting Variants
SamplesNA12005
Known GenesSPATA6
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv7863694
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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