A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3331843



Internal ID14832118
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr10:50479024..50479046hg38UCSC Ensembl
Innerchr10:50479023..50479045hg38UCSC Ensembl
Outerchr10:50479003..50479067hg38UCSC Ensembl
chr10:52238784..52238806hg19UCSC Ensembl
Innerchr10:52238783..52238805hg19UCSC Ensembl
Outerchr10:52238763..52238827hg19UCSC Ensembl
chr10:51908790..51908812hg18UCSC Ensembl
Innerchr10:51908811..51908789hg18UCSC Ensembl
Outerchr10:51908769..51908833hg18UCSC Ensembl
Cytoband10q11.23
Allele length
AssemblyAllele length
hg38287
hg19287
hg18287
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv8671812
SamplesNA19239
Known GenesSGMS1
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3331843
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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