A curated catalogue of human genomic structural variation




Variant Details

Variant: essv12152240



Internal ID978153
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:180286144..180286728hg38UCSC Ensembl
Innerchr5:180286145..180286728hg38UCSC Ensembl
Outerchr5:180286144..180286729hg38UCSC Ensembl
chr5:179713144..179713728hg19UCSC Ensembl
Innerchr5:179713145..179713728hg19UCSC Ensembl
Outerchr5:179713144..179713729hg19UCSC Ensembl
Cytoband5q35.3
Allele length
AssemblyAllele length
hg38585
hg19585
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3607769
Supporting Variants
SamplesHG00608
Known GenesMAPK9
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv12152240
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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