A curated catalogue of human genomic structural variation




Variant Details

Variant: essv12101199



Internal ID2978031
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:151869463..151873674hg38UCSC Ensembl
Innerchr5:151869963..151873174hg38UCSC Ensembl
Outerchr5:151868463..151874674hg38UCSC Ensembl
chr5:151249024..151253235hg19UCSC Ensembl
Innerchr5:151249524..151252735hg19UCSC Ensembl
Outerchr5:151248024..151254235hg19UCSC Ensembl
Cytoband5q33.1
Allele length
AssemblyAllele length
hg384212
hg194212
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3607187
Supporting Variants
SamplesHG02628
Known GenesGLRA1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv12101199
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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