A curated catalogue of human genomic structural variation




Variant Details

Variant: essv12066397



Internal ID1222086
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:133852947..133863816hg38UCSC Ensembl
Innerchr5:133852947..133863816hg38UCSC Ensembl
Outerchr5:133852683..133864082hg38UCSC Ensembl
chr5:133188638..133199507hg19UCSC Ensembl
Innerchr5:133188638..133199507hg19UCSC Ensembl
Outerchr5:133188374..133199773hg19UCSC Ensembl
Cytoband5q31.1
Allele length
AssemblyAllele length
hg3810870
hg1910870
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3606835
Supporting Variants
SamplesHG01085
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv12066397
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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