A curated catalogue of human genomic structural variation




Variant Details

Variant: essv11936246



Internal ID4558799
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:66147830..66148369hg38UCSC Ensembl
Innerchr5:66147831..66148369hg38UCSC Ensembl
Outerchr5:66147830..66148370hg38UCSC Ensembl
chr5:65443658..65444197hg19UCSC Ensembl
Innerchr5:65443659..65444197hg19UCSC Ensembl
Outerchr5:65443658..65444198hg19UCSC Ensembl
Cytoband5q12.3
Allele length
AssemblyAllele length
hg38540
hg19540
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3605309
Supporting Variants
SamplesHG04060
Known GenesSREK1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv11936246
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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