A curated catalogue of human genomic structural variation




Variant Details

Variant: essv13700550



Internal ID3702373
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr10:14123961..14126827hg38UCSC Ensembl
Innerchr10:14124011..14126777hg38UCSC Ensembl
Outerchr10:14123854..14126934hg38UCSC Ensembl
chr10:14165960..14168826hg19UCSC Ensembl
Innerchr10:14166010..14168776hg19UCSC Ensembl
Outerchr10:14165853..14168933hg19UCSC Ensembl
Cytoband10p13
Allele length
AssemblyAllele length
hg382867
hg192867
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3622416
Supporting Variants
SamplesNA18953
Known GenesFRMD4A
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv13700550
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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