A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3409615



Internal ID15256575
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr10:104057446..104057465hg38UCSC Ensembl
Innerchr10:104057442..104057469hg38UCSC Ensembl
Outerchr10:104057423..104057488hg38UCSC Ensembl
chr10:105817204..105817223hg19UCSC Ensembl
Innerchr10:105817200..105817227hg19UCSC Ensembl
Outerchr10:105817181..105817246hg19UCSC Ensembl
chr10:105807194..105807213hg18UCSC Ensembl
Innerchr10:105807217..105807190hg18UCSC Ensembl
Outerchr10:105807171..105807236hg18UCSC Ensembl
Cytoband10q25.1
Allele length
AssemblyAllele length
hg38300
hg19300
hg18300
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9649125, essv9649136, essv9649147, essv9649114
SamplesNA19141, NA12815, NA12874, NA19143
Known GenesCOL17A1
MethodSequencing
Analysis
Platform454
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3409615
Frequency
Sample Size185
Observed Gain4
Observed Loss0
Observed Complex0
Frequencyn/a


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