A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3356260



Internal ID14856523
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:112636599..112636609hg38UCSC Ensembl
Innerchr1:112636591..112636617hg38UCSC Ensembl
Outerchr1:112636578..112636627hg38UCSC Ensembl
chr1:113179221..113179231hg19UCSC Ensembl
Innerchr1:113179213..113179239hg19UCSC Ensembl
Outerchr1:113179200..113179249hg19UCSC Ensembl
chr1:112980744..112980754hg18UCSC Ensembl
Innerchr1:112980762..112980736hg18UCSC Ensembl
Outerchr1:112980723..112980772hg18UCSC Ensembl
Cytoband1p13.2
Allele length
AssemblyAllele length
hg381598
hg191598
hg181598
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv8673757, essv8673758
SamplesNA19239, NA19240
Known GenesCAPZA1
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3356260
Frequency
Sample Size185
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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