A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3414627



Internal ID15261586
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:205209666..205209666hg38UCSC Ensembl
Innerchr1:205209665..205209667hg38UCSC Ensembl
Outerchr1:205209616..205209716hg38UCSC Ensembl
chr1:205178794..205178794hg19UCSC Ensembl
Innerchr1:205178793..205178795hg19UCSC Ensembl
Outerchr1:205178744..205178844hg19UCSC Ensembl
chr1:203445417..203445417hg18UCSC Ensembl
Innerchr1:203445418..203445416hg18UCSC Ensembl
Outerchr1:203445367..203445467hg18UCSC Ensembl
Cytoband1q32.1
Allele length
AssemblyAllele length
hg3853
hg1953
hg1853
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv8701361
SamplesNA12878
Known GenesDSTYK
MethodSequencing
Analysis
Platform454
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3414627
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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