A curated catalogue of human genomic structural variation




Variant Details

Variant: essv12111022



Internal ID1863955
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:157071574..157074878hg38UCSC Ensembl
Innerchr5:157071724..157074728hg38UCSC Ensembl
Outerchr5:157071424..157075028hg38UCSC Ensembl
chr5:156498585..156501889hg19UCSC Ensembl
Innerchr5:156498735..156501739hg19UCSC Ensembl
Outerchr5:156498435..156502039hg19UCSC Ensembl
Cytoband5q33.3
Allele length
AssemblyAllele length
hg383305
hg193305
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3607308
Supporting Variants
SamplesHG01765
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv12111022
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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