A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3380371



Internal ID15227343
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:173894798..173894821hg38UCSC Ensembl
Innerchr1:173894800..173894819hg38UCSC Ensembl
Outerchr1:173894796..173894823hg38UCSC Ensembl
chr1:173863936..173863959hg19UCSC Ensembl
Innerchr1:173863938..173863957hg19UCSC Ensembl
Outerchr1:173863934..173863961hg19UCSC Ensembl
chr1:172130559..172130582hg18UCSC Ensembl
Innerchr1:172130561..172130580hg18UCSC Ensembl
Outerchr1:172130557..172130584hg18UCSC Ensembl
Cytoband1q25.1
Allele length
AssemblyAllele length
hg3857
hg1957
hg1857
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7863778
SamplesNA12005
Known Genes
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3380371
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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