A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3308238



Internal ID14808500
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr10:50479024..50479025hg38UCSC Ensembl
Innerchr10:50478992..50479057hg38UCSC Ensembl
Outerchr10:50478991..50479058hg38UCSC Ensembl
chr10:52238784..52238785hg19UCSC Ensembl
Innerchr10:52238752..52238817hg19UCSC Ensembl
Outerchr10:52238751..52238818hg19UCSC Ensembl
chr10:51908790..51908791hg18UCSC Ensembl
Innerchr10:51908823..51908758hg18UCSC Ensembl
Outerchr10:51908757..51908824hg18UCSC Ensembl
Cytoband10q11.23
Allele length
AssemblyAllele length
hg38287
hg19287
hg18287
Variant TypeCNV mobile element insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7838916
SamplesNA19238
Known GenesSGMS1
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3308238
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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