A curated catalogue of human genomic structural variation




Variant Details

Variant: essv11903977



Internal ID3477356
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:54126894..54129175hg38UCSC Ensembl
Innerchr5:54126944..54129125hg38UCSC Ensembl
Outerchr5:54126760..54129309hg38UCSC Ensembl
chr5:53422724..53425005hg19UCSC Ensembl
Innerchr5:53422774..53424955hg19UCSC Ensembl
Outerchr5:53422590..53425139hg19UCSC Ensembl
Cytoband5q11.2
Allele length
AssemblyAllele length
hg382282
hg192282
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3605083
Supporting Variants
SamplesHG03095
Known GenesARL15
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv11903977
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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