A curated catalogue of human genomic structural variation




Variant Details

Variant: essv11925030



Internal ID1926846
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:60946289..60983862hg38UCSC Ensembl
Innerchr5:60946789..60983362hg38UCSC Ensembl
Outerchr5:60945289..60984862hg38UCSC Ensembl
chr5:60242116..60279689hg19UCSC Ensembl
Innerchr5:60242616..60279189hg19UCSC Ensembl
Outerchr5:60241116..60280689hg19UCSC Ensembl
Cytoband5q12.1
Allele length
AssemblyAllele length
hg3837574
hg1937574
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3605201
Supporting Variants
SamplesHG00589
Known GenesNDUFAF2
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv11925030
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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