A curated catalogue of human genomic structural variation




Variant Details

Variant: essv13700535



Internal ID3702358
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr10:13742053..13742904hg38UCSC Ensembl
Innerchr10:13742054..13742904hg38UCSC Ensembl
Outerchr10:13742053..13742905hg38UCSC Ensembl
chr10:13784053..13784904hg19UCSC Ensembl
Innerchr10:13784054..13784904hg19UCSC Ensembl
Outerchr10:13784053..13784905hg19UCSC Ensembl
Cytoband10p13
Allele length
AssemblyAllele length
hg38852
hg19852
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3622410
Supporting Variants
SamplesNA18517
Known GenesFRMD4A
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv13700535
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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