A curated catalogue of human genomic structural variation




Variant Details

Variant: essv12014629



Internal ID901987
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:108212076..108213941hg38UCSC Ensembl
Innerchr5:108212093..108213924hg38UCSC Ensembl
Outerchr5:108212059..108213958hg38UCSC Ensembl
chr5:107547777..107549642hg19UCSC Ensembl
Innerchr5:107547794..107549625hg19UCSC Ensembl
Outerchr5:107547760..107549659hg19UCSC Ensembl
Cytoband5q21.3
Allele length
AssemblyAllele length
hg381866
hg191866
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3606205
Supporting Variants
SamplesHG00525
Known GenesFBXL17
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv12014629
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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