A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3370541



Internal ID14870800
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr10:51449637..51449650hg38UCSC Ensembl
Innerchr10:51449636..51449651hg38UCSC Ensembl
Outerchr10:51449623..51449664hg38UCSC Ensembl
chr10:53209397..53209410hg19UCSC Ensembl
Innerchr10:53209396..53209411hg19UCSC Ensembl
Outerchr10:53209383..53209424hg19UCSC Ensembl
chr10:52879403..52879416hg18UCSC Ensembl
Innerchr10:52879417..52879402hg18UCSC Ensembl
Outerchr10:52879389..52879430hg18UCSC Ensembl
Cytoband10q11.23
Allele length
AssemblyAllele length
hg38222
hg19222
hg18222
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv8948259, essv8948257, essv8948276, essv8948262, essv8948261, essv8948275, essv8948274, essv8948270, essv8948273, essv8948263, essv8948271, essv8948272, essv8948267, essv8948266, essv8948264, essv8948265, essv8948260, essv8948268, essv8948277, essv8948256
SamplesNA12249, NA12750, NA07037, NA19114, NA18501, NA18603, NA19108, NA12414, NA18592, NA18638, NA18916, NA12751, NA19190, NA07346, NA18504, NA18907, NA18909, NA12003, NA19225, NA18571
Known GenesPRKG1
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3370541
Frequency
Sample Size185
Observed Gain20
Observed Loss0
Observed Complex0
Frequencyn/a


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