A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2669138



Internal ID9935243
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:178440090..178443844hg38UCSC Ensembl
Outerchr5:178439933..178443997hg38UCSC Ensembl
Innerchr5:177867091..177870845hg19UCSC Ensembl
Outerchr5:177866934..177870998hg19UCSC Ensembl
Cytoband5q35.3
Allele length
AssemblyAllele length
hg384065
hg194065
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1061e199
Supporting Variantsessv6383855
SamplesHG00476
Known GenesCOL23A1
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2669138
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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