A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3607216



Internal ID6994151
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:153090525..153091760hg38UCSC Ensembl
Innerchr5:153090525..153091760hg38UCSC Ensembl
Outerchr5:153090234..153092047hg38UCSC Ensembl
chr5:152470085..152471320hg19UCSC Ensembl
Innerchr5:152470085..152471320hg19UCSC Ensembl
Outerchr5:152469794..152471607hg19UCSC Ensembl
Cytoband5q33.1
Allele length
AssemblyAllele length
hg381236
hg191236
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv12102877
SamplesHG01390
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3607216
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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