A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3606205



Internal ID6993141
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 State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv12014630, essv12014629, essv12014631
SamplesHG00557, NA18946, HG00525
Known GenesFBXL17
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3606205
Frequency
Sample Size2504
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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