A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8651768



Internal ID14752762
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 StatusS
Merged Variantsesv3432490
Supporting Variants
SamplesNA19240
Known GenesCOL17A1
MethodSequencing
Analysis
PlatformSOLiD
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8651768
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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