A curated catalogue of human genomic structural variation




Variant Details

Variant: essv11938424



Internal ID6601275
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:69219259..69225297hg38UCSC Ensembl
Innerchr5:69219306..69225250hg38UCSC Ensembl
Outerchr5:69219212..69225344hg38UCSC Ensembl
chr5:68515086..68521124hg19UCSC Ensembl
Innerchr5:68515133..68521077hg19UCSC Ensembl
Outerchr5:68515039..68521171hg19UCSC Ensembl
Cytoband5q13.2
Allele length
AssemblyAllele length
hg386039
hg196039
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3605379
Supporting Variants
SamplesNA20771
Known GenesMRPS36
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv11938424
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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