A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3432490



Internal ID14932760
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr10:104035739..104036248hg38UCSC Ensembl
Innerchr10:104035739..104036248hg38UCSC Ensembl
Outerchr10:104035468..104036437hg38UCSC Ensembl
chr10:105795497..105796006hg19UCSC Ensembl
Innerchr10:105795497..105796006hg19UCSC Ensembl
Outerchr10:105795226..105796195hg19UCSC Ensembl
chr10:105785487..105785996hg18UCSC Ensembl
Innerchr10:105785487..105785996hg18UCSC Ensembl
Outerchr10:105785216..105786185hg18UCSC Ensembl
Cytoband10q24.33
Allele length
AssemblyAllele length
hg38510
hg19510
hg18510
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv8651768
SamplesNA19240
Known GenesCOL17A1
MethodSequencing
Analysis
PlatformSOLiD
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3432490
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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