A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3434332



Internal ID15281286
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:27685954..27688052hg38UCSC Ensembl
Innerchr1:27686954..27687052hg38UCSC Ensembl
Outerchr1:27684954..27689052hg38UCSC Ensembl
chr1:28012465..28014563hg19UCSC Ensembl
Innerchr1:28013465..28013563hg19UCSC Ensembl
Outerchr1:28011465..28015563hg19UCSC Ensembl
chr1:27885052..27887150hg18UCSC Ensembl
Innerchr1:27886052..27886150hg18UCSC Ensembl
Outerchr1:27884052..27888150hg18UCSC Ensembl
Cytoband1p35.3
Allele length
AssemblyAllele length
hg382099
hg192099
hg182099
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv8692273
SamplesNA19239
Known Genes
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3434332
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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