A curated catalogue of human genomic structural variation




Variant Details

Variant: essv12126542



Internal ID2128358
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:168663714..168665310hg38UCSC Ensembl
Innerchr5:168663732..168665292hg38UCSC Ensembl
Outerchr5:168663696..168665328hg38UCSC Ensembl
chr5:168090719..168092315hg19UCSC Ensembl
Innerchr5:168090737..168092297hg19UCSC Ensembl
Outerchr5:168090701..168092333hg19UCSC Ensembl
Cytoband5q34
Allele length
AssemblyAllele length
hg381597
hg191597
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3607537
Supporting Variants
SamplesHG02580
Known GenesSLIT3
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv12126542
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer