A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3302772



Internal ID15149720
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:62120361..62120471hg38UCSC Ensembl
Innerchr3:62120416..62120416hg38UCSC Ensembl
Outerchr3:62120261..62120571hg38UCSC Ensembl
chr3:62106035..62106145hg19UCSC Ensembl
Innerchr3:62106090..62106090hg19UCSC Ensembl
Outerchr3:62105935..62106245hg19UCSC Ensembl
chr3:62081075..62081185hg18UCSC Ensembl
Innerchr3:62081130..62081130hg18UCSC Ensembl
Outerchr3:62080975..62081285hg18UCSC Ensembl
Cytoband3p14.2
Allele length
AssemblyAllele length
hg38111
hg19111
hg18111
Variant TypeCNV tandem duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7733820, essv7733684, essv7738924, essv7738422, essv7735778, essv7734202, essv7732117, essv7734095, essv7737638, essv7734731, essv7737199, essv7733661, essv7738830, essv7733292
SamplesNA12717, NA18592, NA18526, NA07357, NA18944, NA18558, NA12828, NA18951, NA11919, NA18523, NA18961, NA19147, NA18564, NA19102
Known GenesPTPRG
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3302772
Frequency
Sample Size185
Observed Gain14
Observed Loss0
Observed Complex0
Frequencyn/a


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