A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3347457



Internal ID14847722
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr10:129618770..129618770hg38UCSC Ensembl
Innerchr10:129618769..129618771hg38UCSC Ensembl
Outerchr10:129618720..129618820hg38UCSC Ensembl
chr10:131417034..131417034hg19UCSC Ensembl
Innerchr10:131417033..131417035hg19UCSC Ensembl
Outerchr10:131416984..131417084hg19UCSC Ensembl
chr10:131307024..131307024hg18UCSC Ensembl
Innerchr10:131307025..131307023hg18UCSC Ensembl
Outerchr10:131306974..131307074hg18UCSC Ensembl
Cytoband10q26.3
Allele length
AssemblyAllele length
hg3852
hg1952
hg1852
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv8701257
SamplesNA12878
Known GenesMGMT
MethodSequencing
Analysis
Platform454
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3347457
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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