A curated catalogue of human genomic structural variation




Variant Details

Variant: essv12066473



Internal ID1264446
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:134059720..134062996hg38UCSC Ensembl
Innerchr5:134059720..134062996hg38UCSC Ensembl
Outerchr5:134059488..134063328hg38UCSC Ensembl
chr5:133395411..133398687hg19UCSC Ensembl
Innerchr5:133395411..133398687hg19UCSC Ensembl
Outerchr5:133395179..133399019hg19UCSC Ensembl
Cytoband5q31.1
Allele length
AssemblyAllele length
hg383277
hg193277
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3606839
Supporting Variants
SamplesHG01111
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv12066473
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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