A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2673474



Internal ID9939579
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:178439873..178443953hg38UCSC Ensembl
Outerchr5:178439836..178444003hg38UCSC Ensembl
Innerchr5:177866874..177870954hg19UCSC Ensembl
Outerchr5:177866837..177871004hg19UCSC Ensembl
Cytoband5q35.3
Allele length
AssemblyAllele length
hg384168
hg194168
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1061e199
Supporting Variantsessv6438670
SamplesHG00476
Known GenesCOL23A1
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2673474
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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