A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3606206



Internal ID6993142
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:108323668..108336012hg38UCSC Ensembl
Innerchr5:108323668..108336012hg38UCSC Ensembl
Outerchr5:108323435..108336411hg38UCSC Ensembl
chr5:107659369..107671713hg19UCSC Ensembl
Innerchr5:107659369..107671713hg19UCSC Ensembl
Outerchr5:107659136..107672112hg19UCSC Ensembl
Cytoband5q21.3
Allele length
AssemblyAllele length
hg3812345
hg1912345
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv12014632
SamplesHG04180
Known GenesFBXL17
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3606206
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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