A curated catalogue of human genomic structural variation




Variant Details

Variant: essv12105366



Internal ID4711388
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:154611196..154614365hg38UCSC Ensembl
Innerchr5:154611208..154614353hg38UCSC Ensembl
Outerchr5:154611184..154614377hg38UCSC Ensembl
chr5:153990756..153993925hg19UCSC Ensembl
Innerchr5:153990768..153993913hg19UCSC Ensembl
Outerchr5:153990744..153993937hg19UCSC Ensembl
Cytoband5q33.2
Allele length
AssemblyAllele length
hg383170
hg193170
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3607247
Supporting Variants
SamplesHG04229
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv12105366
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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