A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8950825



Internal ID13432534
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr10:121777469..121777485hg38UCSC Ensembl
Innerchr10:121777467..121777485hg38UCSC Ensembl
Outerchr10:121777451..121777503hg38UCSC Ensembl
chr10:123536984..123537000hg19UCSC Ensembl
Innerchr10:123536982..123537000hg19UCSC Ensembl
Outerchr10:123536966..123537018hg19UCSC Ensembl
chr10:123526974..123526990hg18UCSC Ensembl
Innerchr10:123526990..123526972hg18UCSC Ensembl
Outerchr10:123526956..123527008hg18UCSC Ensembl
Cytoband10q26.13
Allele length
AssemblyAllele length
hg38289
hg19289
hg18289
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3358854
Supporting Variants
SamplesNA18501
Known GenesATE1
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8950825
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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