A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3332926



Internal ID15179913
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:36121719..36121727hg38UCSC Ensembl
Innerchr1:36121721..36121725hg38UCSC Ensembl
Outerchr1:36121717..36121729hg38UCSC Ensembl
chr1:36587320..36587328hg19UCSC Ensembl
Innerchr1:36587322..36587326hg19UCSC Ensembl
Outerchr1:36587318..36587330hg19UCSC Ensembl
chr1:36359907..36359915hg18UCSC Ensembl
Innerchr1:36359909..36359913hg18UCSC Ensembl
Outerchr1:36359905..36359917hg18UCSC Ensembl
Cytoband1p34.3
Allele length
AssemblyAllele length
hg3856
hg1956
hg1856
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7863689
SamplesNA12005
Known Genes
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3332926
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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