A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3606855



Internal ID6993790
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:135079922..135086531hg38UCSC Ensembl
Innerchr5:135079922..135086531hg38UCSC Ensembl
Outerchr5:135079710..135086603hg38UCSC Ensembl
chr5:134415612..134422221hg19UCSC Ensembl
Innerchr5:134415612..134422221hg19UCSC Ensembl
Outerchr5:134415400..134422293hg19UCSC Ensembl
Cytoband5q31.1
Allele length
AssemblyAllele length
hg386610
hg196610
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv12067122
SamplesNA19788
Known GenesC5orf66
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3606855
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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