A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8692340



Internal ID15111417
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:43596594..43597492hg38UCSC Ensembl
Innerchr1:43596593..43597493hg38UCSC Ensembl
Outerchr1:43595594..43598492hg38UCSC Ensembl
chr1:44062265..44063163hg19UCSC Ensembl
Innerchr1:44062264..44063164hg19UCSC Ensembl
Outerchr1:44061265..44064163hg19UCSC Ensembl
chr1:43834852..43835750hg18UCSC Ensembl
Innerchr1:43835751..43834851hg18UCSC Ensembl
Outerchr1:43833852..43836750hg18UCSC Ensembl
Cytoband1p34.2
Allele length
AssemblyAllele length
hg38899
hg19899
hg18899
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3364493
Supporting Variants
SamplesNA19240
Known GenesPTPRF
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8692340
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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