A curated catalogue of human genomic structural variation




Variant Details

Variant: essv14678337



Internal ID2007230
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:28042000..28044000hg38UCSC Ensembl
Innerchr13:28042000..28044000hg38UCSC Ensembl
Outerchr13:28041703..28044268hg38UCSC Ensembl
chr13:28616137..28618137hg19UCSC Ensembl
Innerchr13:28616137..28618137hg19UCSC Ensembl
Outerchr13:28615840..28618405hg19UCSC Ensembl
Cytoband13q12.2
Allele length
AssemblyAllele length
hg382001
hg192001
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3631627
Supporting Variants
SamplesHG01853
Known GenesFLT3
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv14678337
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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