A curated catalogue of human genomic structural variation




Variant Details

Variant: essv13941370



Internal ID3943186
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr10:114876531..115123608hg38UCSC Ensembl
Innerchr10:114876681..115123458hg38UCSC Ensembl
Outerchr10:114876381..115123758hg38UCSC Ensembl
chr10:116636290..116883372hg19UCSC Ensembl
Innerchr10:116636440..116883222hg19UCSC Ensembl
Outerchr10:116636140..116883522hg19UCSC Ensembl
Cytoband10q25.3
Allele length
AssemblyAllele length
hg38247078
hg19247083
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3624624
Supporting Variants
SamplesHG00238
Known GenesATRNL1, FAM160B1, TRUB1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv13941370
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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