A curated catalogue of human genomic structural variation




Variant Details

Variant: essv14757013



Internal ID3214000
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:60637290..60674511hg38UCSC Ensembl
chr13:61211424..61248645hg19UCSC Ensembl
Cytoband13q21.2
Allele length
AssemblyAllele length
hg3837222
hg1937222
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3632307
Supporting Variants
SamplesHG02817
Known GenesLINC00378
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv14757013
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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