A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6459294



Internal ID9436697
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:179313371..179313790hg38UCSC Ensembl
chr5:178740372..178740791hg19UCSC Ensembl
Cytoband5q35.3
Allele length
AssemblyAllele length
hg38420
hg19420
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsesv2657354
Supporting Variants
SamplesHG00419
Known GenesADAMTS2
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)essv6459294
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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