A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3384448



Internal ID15231418
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:62056419..62056436hg38UCSC Ensembl
Innerchr3:62056421..62056434hg38UCSC Ensembl
Outerchr3:62056417..62056438hg38UCSC Ensembl
chr3:62042093..62042110hg19UCSC Ensembl
Innerchr3:62042095..62042108hg19UCSC Ensembl
Outerchr3:62042091..62042112hg19UCSC Ensembl
chr3:62017133..62017150hg18UCSC Ensembl
Innerchr3:62017135..62017148hg18UCSC Ensembl
Outerchr3:62017131..62017152hg18UCSC Ensembl
Cytoband3p14.2
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 Variantsessv7864141
SamplesNA12005
Known GenesPTPRG
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3384448
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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