A curated catalogue of human genomic structural variation




Variant Details

Variant: essv13700544



Internal ID3702367
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr10:14052913..14055228hg38UCSC Ensembl
Innerchr10:14052913..14055228hg38UCSC Ensembl
Outerchr10:14052638..14055521hg38UCSC Ensembl
chr10:14094912..14097227hg19UCSC Ensembl
Innerchr10:14094912..14097227hg19UCSC Ensembl
Outerchr10:14094637..14097520hg19UCSC Ensembl
Cytoband10p13
Allele length
AssemblyAllele length
hg382316
hg192316
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3622415
Supporting Variants
SamplesHG03135
Known GenesFRMD4A
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv13700544
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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