A curated catalogue of human genomic structural variation




Variant Details

Variant: essv13943533



Internal ID2663007
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr10:115496407..115499422hg38UCSC Ensembl
Innerchr10:115496432..115499397hg38UCSC Ensembl
Outerchr10:115496382..115499447hg38UCSC Ensembl
chr10:117255917..117258932hg19UCSC Ensembl
Innerchr10:117255942..117258907hg19UCSC Ensembl
Outerchr10:117255892..117258957hg19UCSC Ensembl
Cytoband10q25.3
Allele length
AssemblyAllele length
hg383016
hg193016
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3624636
Supporting Variants
SamplesHG02356
Known GenesATRNL1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv13943533
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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