A curated catalogue of human genomic structural variation




Variant Details

Variant: essv12132595



Internal ID830661
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:170897354..170898100hg38UCSC Ensembl
Innerchr5:170897383..170898072hg38UCSC Ensembl
Outerchr5:170897326..170898129hg38UCSC Ensembl
chr5:170324358..170325104hg19UCSC Ensembl
Innerchr5:170324387..170325076hg19UCSC Ensembl
Outerchr5:170324330..170325133hg19UCSC Ensembl
Cytoband5q35.1
Allele length
AssemblyAllele length
hg38747
hg19747
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3607573
Supporting Variants
SamplesHG00419
Known GenesRANBP17
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv12132595
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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