A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3356635



Internal ID15203615
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:37336123..37336123hg38UCSC Ensembl
Innerchr1:37336122..37336124hg38UCSC Ensembl
Outerchr1:37336073..37336173hg38UCSC Ensembl
chr1:37801724..37801724hg19UCSC Ensembl
Innerchr1:37801723..37801725hg19UCSC Ensembl
Outerchr1:37801674..37801774hg19UCSC Ensembl
chr1:37574311..37574311hg18UCSC Ensembl
Innerchr1:37574312..37574310hg18UCSC Ensembl
Outerchr1:37574261..37574361hg18UCSC Ensembl
Cytoband1p34.3
Allele length
AssemblyAllele length
hg38266
hg19266
hg18266
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv8740971
SamplesNA19240
Known Genes
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3356635
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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