A curated catalogue of human genomic structural variation




Variant Details

Variant: essv13700539



Internal ID3702362
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr10:13828609..13830871hg38UCSC Ensembl
Innerchr10:13828662..13830818hg38UCSC Ensembl
Outerchr10:13828556..13830924hg38UCSC Ensembl
chr10:13870609..13872871hg19UCSC Ensembl
Innerchr10:13870662..13872818hg19UCSC Ensembl
Outerchr10:13870556..13872924hg19UCSC Ensembl
Cytoband10p13
Allele length
AssemblyAllele length
hg382263
hg192263
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3622411
Supporting Variants
SamplesHG04186
Known GenesFRMD4A
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv13700539
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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