A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8688100



Internal ID14693681
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr10:46242510..46249708hg38UCSC Ensembl
Innerchr10:46243510..46248708hg38UCSC Ensembl
Outerchr10:46241510..46250708hg38UCSC Ensembl
chr10:47613746..47620944hg19UCSC Ensembl
Innerchr10:47614746..47619944hg19UCSC Ensembl
Outerchr10:47612746..47621944hg19UCSC Ensembl
chr10:47083752..47090950hg18UCSC Ensembl
Innerchr10:47084752..47089950hg18UCSC Ensembl
Outerchr10:47082752..47091950hg18UCSC Ensembl
Cytoband10q11.22
Allele length
AssemblyAllele length
hg387199
hg197199
hg187199
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag0
Merged StatusS
Merged Variantsesv3368232
Supporting Variants
SamplesNA19239
Known GenesANTXRLP1
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8688100
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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