A curated catalogue of human genomic structural variation




Variant Details

Variant: essv12019344



Internal ID1402682
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:111039938..111046930hg38UCSC Ensembl
Innerchr5:111039938..111046930hg38UCSC Ensembl
Outerchr5:111039807..111047078hg38UCSC Ensembl
chr5:110375636..110382628hg19UCSC Ensembl
Innerchr5:110375636..110382628hg19UCSC Ensembl
Outerchr5:110375505..110382776hg19UCSC Ensembl
Cytoband5q22.1
Allele length
AssemblyAllele length
hg386993
hg196993
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3606261
Supporting Variants
SamplesHG01271
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv12019344
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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