A curated catalogue of human genomic structural variation




Variant Details

Variant: essv13939522



Internal ID3941338
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr10:112384960..112390455hg38UCSC Ensembl
Innerchr10:112384960..112390455hg38UCSC Ensembl
Outerchr10:112384745..112390687hg38UCSC Ensembl
chr10:114144718..114150213hg19UCSC Ensembl
Innerchr10:114144718..114150213hg19UCSC Ensembl
Outerchr10:114144503..114150445hg19UCSC Ensembl
Cytoband10q25.2
Allele length
AssemblyAllele length
hg385496
hg195496
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3624583
Supporting Variants
SamplesHG02060
Known GenesACSL5
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv13939522
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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