A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3306508



Internal ID15153456
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:95938199..95938200hg38UCSC Ensembl
Innerchr1:95938171..95938228hg38UCSC Ensembl
Outerchr1:95938170..95938229hg38UCSC Ensembl
chr1:96403755..96403756hg19UCSC Ensembl
Innerchr1:96403727..96403784hg19UCSC Ensembl
Outerchr1:96403726..96403785hg19UCSC Ensembl
chr1:96176343..96176344hg18UCSC Ensembl
Innerchr1:96176372..96176315hg18UCSC Ensembl
Outerchr1:96176314..96176373hg18UCSC Ensembl
Cytoband1p21.3
Allele length
AssemblyAllele length
hg38295
hg19295
hg18295
Variant TypeCNV mobile element insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7742471, essv7760304, essv7741676, essv7759110, essv7751424, essv7749823, essv7754977, essv7747849, essv7761418, essv7756284, essv7741449
SamplesNA18502, NA18508, NA18507, NA18870, NA18520, NA18871, NA18499, NA19225, NA18523, NA19093, NA19116
Known Genes
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3306508
Frequency
Sample Size185
Observed Gain11
Observed Loss0
Observed Complex0
Frequencyn/a


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