A curated catalogue of human genomic structural variation




Variant Details

Variant: essv13899671



Internal ID3901487
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr10:93427175..93430633hg38UCSC Ensembl
Innerchr10:93427675..93430133hg38UCSC Ensembl
Outerchr10:93426175..93431633hg38UCSC Ensembl
chr10:95186932..95190390hg19UCSC Ensembl
Innerchr10:95187432..95189890hg19UCSC Ensembl
Outerchr10:95185932..95191390hg19UCSC Ensembl
Cytoband10q23.33
Allele length
AssemblyAllele length
hg383459
hg193459
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3624240
Supporting Variants
SamplesNA18519
Known GenesMYOF
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv13899671
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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