A curated catalogue of human genomic structural variation




Variant Details

Variant: essv12066551



Internal ID2068367
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:134313841..134317353hg38UCSC Ensembl
Innerchr5:134313876..134317319hg38UCSC Ensembl
Outerchr5:134313807..134317388hg38UCSC Ensembl
chr5:133649532..133653044hg19UCSC Ensembl
Innerchr5:133649567..133653010hg19UCSC Ensembl
Outerchr5:133649498..133653079hg19UCSC Ensembl
Cytoband5q31.1
Allele length
AssemblyAllele length
hg383513
hg193513
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3606845
Supporting Variants
SamplesHG01680
Known GenesCDKL3
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv12066551
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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