A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3607739



Internal ID6647978
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:179134662..179135851hg38UCSC Ensembl
Innerchr5:179134672..179135842hg38UCSC Ensembl
Outerchr5:179134653..179135861hg38UCSC Ensembl
chr5:178561663..178562852hg19UCSC Ensembl
Innerchr5:178561673..178562843hg19UCSC Ensembl
Outerchr5:178561654..178562862hg19UCSC Ensembl
Cytoband5q35.3
Allele length
AssemblyAllele length
hg381190
hg191190
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv12150330
SamplesHG00479
Known GenesADAMTS2
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3607739
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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