A curated catalogue of human genomic structural variation




Variant Details

Variant: essv12046151



Internal ID2062077
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:124425579..124546683hg38UCSC Ensembl
Innerchr5:124425660..124546602hg38UCSC Ensembl
Outerchr5:124425498..124546764hg38UCSC Ensembl
chr5:123761272..123882376hg19UCSC Ensembl
Innerchr5:123761353..123882295hg19UCSC Ensembl
Outerchr5:123761191..123882457hg19UCSC Ensembl
Cytoband5q23.2
Allele length
AssemblyAllele length
hg38121105
hg19121105
Variant TypeOTHER inversion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3606630
Supporting Variants
SamplesHG01879
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv12046151
Frequency
Sample Size2504
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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