A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8693602



Internal ID14690039
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:26471580..26472478hg38UCSC Ensembl
Innerchr2:26471579..26472479hg38UCSC Ensembl
Outerchr2:26470580..26473478hg38UCSC Ensembl
chr2:26694448..26695346hg19UCSC Ensembl
Innerchr2:26694447..26695347hg19UCSC Ensembl
Outerchr2:26693448..26696346hg19UCSC Ensembl
chr2:26547952..26548850hg18UCSC Ensembl
Innerchr2:26548851..26547951hg18UCSC Ensembl
Outerchr2:26546952..26549850hg18UCSC Ensembl
Cytoband2p23.3
Allele length
AssemblyAllele length
hg38899
hg19899
hg18899
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3435082
Supporting Variants
SamplesNA19239
Known GenesOTOF
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8693602
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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