A curated catalogue of human genomic structural variation




Variant Details

Variant: essv12030221



Internal ID2032037
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:116078844..116301158hg38UCSC Ensembl
chr5:115414541..115636855hg19UCSC Ensembl
Cytoband5q23.1
Allele length
AssemblyAllele length
hg38222315
hg19222315
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3606380
Supporting Variants
SamplesNA19083
Known GenesCOMMD10
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv12030221
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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