A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3445133



Internal ID15292085
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:43595994..43597492hg38UCSC Ensembl
Innerchr1:43596492..43596994hg38UCSC Ensembl
Outerchr1:43594994..43598492hg38UCSC Ensembl
chr1:44061665..44063163hg19UCSC Ensembl
Innerchr1:44062163..44062665hg19UCSC Ensembl
Outerchr1:44060665..44064163hg19UCSC Ensembl
chr1:43834252..43835750hg18UCSC Ensembl
Innerchr1:43835252..43834750hg18UCSC Ensembl
Outerchr1:43833252..43836750hg18UCSC Ensembl
Cytoband1p34.2
Allele length
AssemblyAllele length
hg381499
hg191499
hg181499
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv8692339
SamplesNA19239
Known GenesPTPRF
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3445133
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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