A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3376619



Internal ID15223592
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr10:68853992..68854000hg38UCSC Ensembl
Innerchr10:68853994..68853998hg38UCSC Ensembl
Outerchr10:68853990..68854002hg38UCSC Ensembl
chr10:70613748..70613756hg19UCSC Ensembl
Innerchr10:70613750..70613754hg19UCSC Ensembl
Outerchr10:70613746..70613758hg19UCSC Ensembl
chr10:70283754..70283762hg18UCSC Ensembl
Innerchr10:70283756..70283760hg18UCSC Ensembl
Outerchr10:70283752..70283764hg18UCSC Ensembl
Cytoband10q21.3
Allele length
AssemblyAllele length
hg3855
hg1955
hg1855
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7865384, essv7865385
SamplesNA12005, NA18871
Known GenesSTOX1
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3376619
Frequency
Sample Size185
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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