A curated catalogue of human genomic structural variation




Variant Details

Variant: essv7743888



Internal ID13855278
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr10:22749066..22749067hg38UCSC Ensembl
Innerchr10:22749035..22749098hg38UCSC Ensembl
Outerchr10:22749034..22749099hg38UCSC Ensembl
chr10:23037995..23037996hg19UCSC Ensembl
Innerchr10:23037964..23038027hg19UCSC Ensembl
Outerchr10:23037963..23038028hg19UCSC Ensembl
chr10:23078001..23078002hg18UCSC Ensembl
Innerchr10:23078033..23077970hg18UCSC Ensembl
Outerchr10:23077969..23078034hg18UCSC Ensembl
Cytoband10p12.2
Allele length
AssemblyAllele length
hg38300
hg19300
hg18300
Variant TypeCNV mobile element insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3304209
Supporting Variants
SamplesNA18511
Known Genes
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv7743888
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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